Would you like email updates of new search results? Pattern and flash VEPs have diverse applications and may be used to monitor visual pathway maturation in infants with poor vision or amblyopia or to monitor optic nerve function in patients with known neurological disease. 3b). Robson, A.G., Nilsson, J., Li, S. et al. By continuing you agree to the use of cookies. Peripheral visual field loss may also occur in inflammatory retinal disorders such as BRC, associated with variable retinal dysfunction but often characterized by generalized cone system dysfunction, manifest as delay in the LA 30Hz ERG, and sometimes associated with additional inner retinal rod system involvement (reduction in DA 10.0 ERG b:a ratio) which may be reversible following treatment (Fig. developed by the International Society for Clinical . Mobasserian A, Zaidi M, Halim S, Hwang JJ, Regenold J, Akhavanrezayat A, Karaca I, Khojasteh Jafari H, Yavari N, Matsumiya W, Yasar C, Than NTT, Uludag G, Do D, Ghoraba H, Nguyen QD. Disk pallor may be a feature of optic neuropathy or retinopathy, including cone and cone-rod dystrophies. The LA3.0 ERG is markedly subnormal with a low b:a ratio. However, the enhanced capability of fundus imaging has not displaced electrophysiological methods of testing function. This article does not contain any research studies with animals performed by any of the authors. Approximately the first 8ms of the cornea-negative a-wave reflects rod hyperpolarizations, and as the a-wave in the DA 10.0 ERG is of shorter peak time and larger than in the DA 3.0 ERG, it provides a better measure of rod photoreceptor function. Common clinical presentations and symptoms are described with illustrative examples and suggested investigation strategies. 1c) or mfERG testing. VEP abnormalities may occur in an asymptomatic eye and in visually asymptomatic patients with multiple sclerosis, consistent with subclinical demyelination. /. Flash VEPs and ERGs are normal in idiopathic CMN. A normal ERG may also prompt the need for further investigations such as VEPs or neuroradiology. The ERGs in vitamin A deficiency are characterized by severe rod system dysfunction and normal or near-normal cone system function, similar to the ERGs in Riggs-type CSNB. The basic principles of electrodiagnostic testing are outlined in this document, but the document is not intended to be prescriptive or to address every clinical scenario and is not a mandate for specific procedures on individual patients. Acute visual acuity loss with pain on eye movement is typical of optic neuritis, and VEPs are typically delayed in keeping with demyelination (Fig. ISCEV guide to visual electrodiagnostic procedures - Documenta Ophthalmologica (free) Support: SPECIALTIES. In progressive retinal degenerations such as retinitis pigmentosa, which in mild cases may be associated with a normal or near-normal fundus appearance, there is ERG evidence of a rod-cone dystrophy (Fig. Night blindness (nyctalopia) can result from generalized rod system dysfunction, and this may be confirmed or excluded using a full-field ERG. This document developed by the International Society for Clinical Electrophysiology of Vision provides an introduction to standard visual electrodiagnostic procedures in widespread use including the full-field electroretinogram (ERG), the pattern electroretinogram (pattern ERG or PERG), the multifocal electroretinogram (multifocal ERG or mfERG), the electrooculogram (EOG) and the cortical-derived visual evoked potential (VEP). The main fluorophore to short-wavelength excitation is lipofuscin, derived from the phagocytosis of shed photoreceptor outer segments in the RPE. The timing, amplitude and waveform shape of the P100 component are used to evaluate pattern-reversal VEPs, which provide an important objective test in the investigation of suspected optic nerve disease or post-retinal visual pathway dysfunction. 2018, The Author(s). PERGs are attenuated by poor refraction and ocular media opacity, and care must be taken to optimize the optical quality of the checkerboard stimulus; for this reason, contact lens electrodes are not suitable. The weak flash (DA 0.01) ERG arises in the inner retinal rod bipolar cells and is the only standard test that selectively monitors rod system function. note = "Funding Information: Acknowledgements A draft of this document was presented to all ISCEV members, and the final version incorporates the critical feedback of many. The full-field ERG is sensitive to retinal ischemic disorders affecting the inner retina. Traditional full-field ERG parameters, such as a-wave and b-wave amplitudes, are insensitive to ganglion cell injury, but there is increasing interest in the photopic negative response (PhNR). It is stressed that multiple tests may not be needed in all patients and that electrophysiological findings and accurate diagnosis require interpretation in the context of the clinical findings. Common clinical presentations and symptoms are described with illustrative examples and suggested investigation strategies.". There are several other potential masquerades of optic neuropathy including occult maculopathy (inherited or acquired) and central serous chorioretinopathy (CSR); both may manifest PERG P50 or central mfERG abnormalities. If the eye examination, ERG, and VEP are normal or near-normal, this provides reassurance, and the prognosis for development of normal or near-normal vision is reasonably good. Localization of dysfunction posterior to the optic nerves requires multichannel VEP recordings. The PERG is recorded to an alternating high-contrast checkerboard using a corneal electrode. Rapid loss of visual acuity may occur in acquired disorders such as paraneoplastic (carcinoma associated retinopathy; CAR) or autoimmune retinopathy (AIR), which are often without fundus abnormality at presentation and are typically associated with pronounced rod and cone photoreceptor dysfunction, evident on ERG testing. In rare retinal dystrophies, ERGs can be used to identify the gene responsible, e.g., in enhanced S-cone syndrome (NR2E3), cone dystrophy with supernormal ERG (KCNV2) and RGS9/R9AP-retinopathy, as outlined in Table1. keywords = "Clinical electrophysiology, Electrooculogram (EOG), Electroretinogram (ERG), ISCEV standards, Maculopathy, Multifocal ERG (mfERG), Optic neuropathy, Pattern ERG, Retinopathy, Visual evoked potential (VEP)". The DA oscillatory potentials (OPs) are small high-frequency components normally visible on the rising limb of the DA 3.0 and DA 10.0 ERG b-waves and are thought to reflect amacrine cell signaling. Marmor MF, Arden GB, Nilsson SEG, Zrenner E (1989) Standard for clinical . Dive into the research topics of 'ISCEV guide to visual electrodiagnostic procedures'. The ISCEV website should be consulted for . The transient PERG has two major components of diagnostic value: a positive polarity P50 and a negative polarity N95 (Figs. The drug causes peripheral visual field constriction in approximately 30% of adults. doi: 10.1007/s10633-011-9296-8. It is noted that the ERG is usually abnormal in the presence of intraocular silicone oil tamponade (for retinal detachment), but interpretation is confounded because the oil impedes conduction of the electrical signals from the retina to the corneal surface. MfERGs in cases ac showed a high degree of inter-ocular symmetry; abnormalities were unilateral in d. Traces are shown in retinal view. Several medications commonly administered systemically for non-ocular conditions are potentially toxic to the macula, retina or optic nerves, and pre-treatment assessment and monitoring may be considered. A 30Hz flash stimulus, superimposed on the background, is used to elicit the LA 30Hz flicker ERG, generated largely by post-receptoral retinal structures. Non-organic visual loss is relatively common in older children, and in such circumstances, the electrophysiological data are usually normal even though there may be reported profound visual loss. Clinical electrophysiology; Electrooculogram (EOG); Electroretinogram (ERG); ISCEV standards; Maculopathy; Multifocal ERG (mfERG); Optic neuropathy; Pattern ERG; Retinopathy; Visual evoked potential (VEP). The multifocal ERG, for example, may reveal annular or parafoveal macular dysfunction that can manifest as an early stage of hydroxychloroquine toxicity, before the development of a visible bulls-eye lesions and before structural changes are evident or obvious on retinal imaging. In cone dystrophies, the LA 30Hz and LA 3.0 ERGs show delay and/or amplitude reduction, and in cone-rod dystrophy, there is additional abnormality of the DA ERGs (Fig. 2022 Nov 17;13:959347. doi: 10.3389/fpsyt.2022.959347. The pattern ERG and mfERG may be used to assess the severity of macular dysfunction (Figs. LA 30Hz ERGs are markedly reduced and have a bifid shape. The ISCEV standard full-field ERGs (Fig. Reliable recording requires good patient fixation, and corneal electrodes are required as signals are small. Robson AG, Nilsson J, Li S, Jalali S, Fulton AB, Tormene AP et al. AP, Holder GE, Brodie SE (2018) ISCEV guide to visual electrodiagnostic procedures. 2012;124:113. Prog Ret Eye Res 20:531561, Article 1c). Flash VEPs are usually normal, and even if there is dysfunction with non-organic overlay, it is difficult to reconcile a detectable flash VEP with no perception of light vision. The tests are noninvasive and provide an objective indication of function relating to different locations and cell types within the visual system. Illustrative examples of mfERG recordings are shown in a case of retinitis pigmentosa (RP) with central macular sparing (Fig. The reduction in the a-wave confirms rod photoreceptor dysfunction; there is concomitant b-wave reduction because the b-wave is generated downstream from the abnormal rod photoreceptors. The ERG is helpful in monitoring patients who are too young or lack the ability to perform visual field testing. The normal pattern-reversal VEP has a prominent positive component at approximately 100ms (P100; Fig. and Tormene, {Alma Patrizia} and Holder, {Graham E.} and Brodie, {Scott E.}". PubMedGoogle Scholar. Common causes of optic neuropathy are outlined below. Autoimmune disorders, such as CAR and AIR, may also present with rapid visual field constriction and marked ERG abnormality (see above). If a unilateral optic nerve lesion is anterior to the optic chiasm, there will be unilateral pattern VEP abnormality. The pattern VEP P100 component in c is undetectable, and PERG shows a reduced N95:P50 ratio and shortening of P50 peak time (inter-ocular difference 7ms) compared with the fellow eye, indicating severe optic nerve dysfunction with retinal ganglion cell involvement. ERG evaluations are also becoming an integral part of various clinical trials comparing outcome efficacies of various surgical or medical procedures involving the macula such as macular holes, epiretinal membranes, anti-VEGF treatments, macular detachments and central serous chorioretinopathy. Common retinal causes of nystagmus include Leber congenital amaurosis (LCA), associated with severe generalized photoreceptor dysfunction (DA and LA ERGs are severely reduced or undetectable), cone and cone-rod dystrophy, rod and S-cone monochromacy and complete and incomplete CSNB, characterized by different ERG phenotypes (see above). 2018 Feb;136(1) :1-26. doi . Doc Ophthalmol 136:1-26. doi: 10.1007/s10633-017-9621-y . ISCEV guide to visual electrodiagnostic procedures; Multifocal Monuments: Travel Guide; ERG Survey Results; Journal: Documenta Ophthalmologica; ISCEV Discussion List: CEVnet; By-Laws; . However, it is important to recognize that VEPs do not reflect higher processing required for normal vision. doi: 10.1007/s10633-014-9473-7. -. eCollection 2022. The LA 30Hz ERG, although often of normal amplitude, may have a slightly broadened trough and often shows borderline or mild peak time delay. Common clinical presentations and symptoms are described with illustrative examples and suggested investigation strategies. Documenta Ophthalmologica. The ERGs are recorded with electrodes in contact with the cornea or conjunctiva or with skin electrodes attached to the lower eyelids. The differential diagnosis includes several retinal disorders such as Leber congenital amaurosis, congenital stationary night blindness, and rod and S-cone monochromacy. We thank Michael Bach, Mitch Brigell, Quentin Davis, Michael F Marmor and Daphne McCulloch in particular for their constructive input. The VEPs are electrical potentials recorded from the scalp derived from electrical currents generated in the visual cortex in response to visual stimulation. Common clinical presentations and symptoms are described with illustrative examples and suggested investigation strategies. VEPs enable objective determination of the nature of the deficit and may help grade the severity of cortical dysfunction. Intraocular drugs, intraoperative dyes and bright lights of ophthalmic surgical equipment have become another source of toxic/phototoxic maculopathy that may need retinal and macular electrophysiology testing for monitoring, for clinical evaluation or for diagnosis. The need to complement anatomical methods with studies of visual function is as keen as ever and perhaps more so as increasing detail in fundus imaging allows ever finer diagnostic distinctions to be made, for which the functional consequences must be determined. An official website of the United States government. Anyone you share the following link with will be able to read this content: Sorry, a shareable link is not currently available for this article. Keywords: Long-duration stimulation reveals reduction in both the On b-wave and Off d-wave. Visual acuity loss may be caused by inherited and acquired causes of maculopathy (with or without retinopathy), optic nerve and visual pathway disease, but this may not be obvious on clinical grounds alone and the distinction is enabled by electrophysiological testing. Robson, Anthony G. ; Nilsson, Josefin ; Li, Shiying et al. provide an introduction to visual electrodiagnostic procedures in widespread use, and to suggest some of the common clinical indications for which these tests are applicable. 2), although normal ranges differ and are age and laboratory dependent. This is a late, cornea-negative deflection in the full-field ERG which is often recorded to red flashes presented on a blue background. The ERG in CRAO has an electronegative DA 3.0 or DA 10.0 ERG, and there is usually marked involvement of the LA ERGs, in keeping with generalized inner retinal dysfunction. Anthony G. Robson, 1, 2 Josefin Nilsson, 3 Shiying Li, 4 Subhadra Jalali, 5 Anne B. Fulton, 6 Alma Patrizia Tormene, 7 Graham E. Holder, 1, 2, 8 and Scott E. Brodie 9 Common signs include a characteristic pattern of optic atrophy (enlargement of the optic nerve cup), sectoral nerve fiber layer defects, often best visible with red-free light and evident on optical coherence tomography (OCT). Hagedorn JL, Dunn TM, Bhattarai S, Stephan C, Mathews KD, Pfeifer W, Drack AV. The VEP indicates the function of the entire visual pathway from the retina to area V1 of the visual cortex and primarily reflects the central retinal projection to the occipital poles. Common clinical presentations and symptoms are described with illustrative examples and suggested investigation strategies. Acquired nystagmus may result from drug toxicity or medication that impairs the function of the labyrinth, thiamine or vitamin B12 deficiency, head injury, stroke, multiple sclerosis or any disease or injury of the brain that affects neural centers that control eye movements. Suggested test strategy for cases of suspected visual pathway dysfunction, illustrating how complementary tests can localize dysfunction within the visual system. Doc Ophthalmol 133(1):19, Carr RE, Siegel IM (1990) Electrodiagnostic testing of the visual system: a clinical guide. ISCEV publishes and regularly updates standards for clinical tests of the visual system. ISCEV.ORG. Acquired causes of photophobia include retinal inflammatory disease such as uveitis and birdshot retinochoroidopathy (BRC), both associated with a high incidence of generalized cone system dysfunction, AIR and CAR. The optical quality of the stimulus is important, and patients should be optimally refracted and must fixate accurately on a central target or cross-hairs throughout the recording period. It is highlighted that visual fields do not always correlate with objective suprathreshold electrophysiological measures of function. In Stargardt disease (ABCA4 retinopathy), the most common monogenic cause of inherited macular/retinal dystrophy, there is usually visible maculopathy and fleck lesions (not always present in children or early disease) and ERGs establish whether dysfunction is confined to the macula or whether there is generalized cone or cone and rod involvement. Symptoms, signs and circumstances that frequently prompt referral for visual electrophysiology are outlined below, with selected examples illustrated in Figs. Commonly used Ishihara plates are highly sensitive to even minor dyschromatopsias, but detect only red-green (protan or deutan axis) abnormalities. Medicine. This document developed by the International Society for Clinical Electrophysiology of Vision provides an introduction to standard visual electrodiagnostic Josen Nilsson . Exclusion of afferent visual pathway dysfunction with electrophysiology may provide an important contribution to the management of such cases. Photophobia is a rare feature of optic nerve disease but can also occur in neurological disorders such as migraine, meningitis and in carotid artery or vertebral artery disease. There are two major response components; an early negative polarity N1 component is derived from cone bipolar cells with a cone photoreceptor contribution and a later positive polarity P1 component that arises in cone bipolar cells. AB - Clinical electrophysiological testing of the visual system incorporates a range of noninvasive tests and provides an objective indication of function relating to different locations and cell types within the visual system. Clinical electrophysiological testing of the visual system incorporates a range of noninvasive tests and provides an objective indication of function relating to different locations and cell types within the visual system. . N1 - Funding Information: The development of a normal EOG light peak requires not only a normally functioning RPE, but also normally functioning rod photoreceptors, with the degree of EOG abnormality broadly corresponding to the degree of rod-derived ERG abnormality. The most common perinatal infection is probably rubella retinopathy, which frequently results in mottled RPE pigmentation ad a salt and pepper appearance, but in such cases the ERG is usually normal or near-normal. Doc Ophthalmol. Please enable it to take advantage of the complete set of features! Clinical examination is also needed to investigate or exclude TORCH infections like viral retinitis that result in nystagmus and variable ERG abnormalities. Accurate localization of dysfunction within the visual pathway may require complementary testing with different techniques, and a suggested test strategy is outlined in Fig. MJ Falk, Q Zhang, E Nakamaru-Ogiso, C Kannabiran, Z Fonseca-Kelly, . Together they form a unique fingerprint. The subsequent cornea-positive b-wave arises largely in the rod On-bipolar cells and reflects function that is post-phototransduction. Webvision - The Organization of the Retina and Visual System https://webvision.med.utah.edu. Support Center Support Center In amblyopic eyes, pattern-reversal VEPs may show amplitude reduction; delays in the major positive (P100) component can occur, but this tends to be more prominent in strabismic rather than anisometropic amblyopia. 2015;130:112. The LA 3.0 ERG a-wave arises in the cone photoreceptors and Off-bipolar cells; the b-wave is dominated by a combination of cone On- and Off-bipolar cell activity, and a reduced b/a ratio suggests cone system dysfunction that is post-phototransduction or post-receptoral. The principal focus is to place these tests in clinical context. Representative full-field and pattern ERGs, Representative full-field and pattern ERGs in a normal subject ( a ), in, Representative pattern-reversal VEPs and PERGs, Representative pattern-reversal VEPs and PERGs in the affected ( a , c ), Multifocal ERGs recorded to a 103-element stimulus array in a representative normal subject, Suggested test strategy for cases of suspected visual pathway dysfunction, illustrating how complementary, MeSH Outwith the clinic, visual electrophysiology delivers objective and quantifiable data and therefore is increasingly used in deep phenotyping and in clinical trials: at the time of writing, over. Brigell M, Bach M, Barber C, Kawasaki K, Kooijman A. Doc Ophthalmol. After; [6, 7]. AIUM Practice Parameter for the Use of Ultrasound to Guide Vascular Access Procedures Journal of Ultrasound in Medicine. Publisher Copyright: {\textcopyright} 2018, The Author(s). Detailed specifications for each procedure may be found in the appropriate ISCEV Standards1,2,3,4,5.The basic principles of Optimal assessment is obtained with judicious use of widely used techniques including those outlined below. 4 Suggested test strategy for cases of suspected visual pathway dysfunction, illustrating how complementary tests can localize dysfunction within the visual system. 4. PMC ISCEV standard for clinical electro-oculography (2017 update). However, the ERGs in vitamin A deficiency usually return to normal following treatment. ISCEV guide to visual electrodiagnostic procedures. Progressive visual loss is also a feature of dominant optic atrophy and nutritional optic neuropathies such as that caused by vitamin B12 deficiency. Representative pattern-reversal VEPs and PERGs in the affected (a, c) and fellow (b, d) eyes in a patient with non-acute optic neuritis (Subject 1; a, b) and in an elderly patient with a severe non-arteritic anterior ischemic optic neuropathy (Subject 2; c, d). Toxic etiology includes ethambutol, methyl-alcohol poisoning (also associated with retinopathy) and rare cases of tobacco toxicity. -, Bach M, Brigell MG, Hawlina M, Holder GE, Johnson MA, McCulloch DL, Meigen T, Viswanathan S. ISCEV standard for clinical pattern electroretinography (PERG): 2012 update. 1e, f), with normal (or near-normal) a-waves and electronegative DA 3.0 and DA 10.0 ERG waveforms (b/a ratio<1). Effect of Pupil Size on Fixed-Luminance Flicker Full-Field Electroretinogram Magnitude. Abnormalities of dark adaptation generally imply retinal pathology, including CSNB, vitamin A deficiency, paraneoplastic retinopathies and degenerative disorders such as retinitis pigmentosa, usually readily differentiated by full-field ERG in clinical context. Flash VEPs may occasionally reveal abnormalities in the presence of normal pattern VEPs, and this can occur in rare cases of optic neuritis, in some cases of optic nerve sheath pathology or due to unsuspected retinopathy. Visual fields allow localization of visual impairment, with classic patterns of visual field loss associated with localized and generalized retinal disorders, macular and optic nerve disease, chiasmal disruptions, lesions of the lateral geniculate body and optic radiations, and cortical lesions. The hexagons of the ISCEV standard stimulus array are scaled to elicit comparable response amplitudes from each stimulus region, resulting in larger hexagons with increasing eccentricity. Recordings showed a high degree of inter-ocular symmetry except in BRC (data from other eye are not shown). Clinical electrophysiological testing has the greatest utility when performed in conjunction with clinical assessment by specialist eye care professionals. Clinical value of electrophysiology in determining the diagnosis of visual dysfunction in neuro-ophthalmology patients. Multichannel VEPs, in excess of the current ISCEV standard, are needed to detect optic nerve misrouting or to detect and characterize chiasmal or retrochiasmal dysfunction. The LA 3.0 ERG has normal a-wave amplitude but with a broadened bifid trough and a b-wave with a sharply rising peak with no oscillatory potentials; the b/a ratio varies but is usually mildly subnormal. Common clinical presentations and symptoms are described with illustrative examples and suggested investigation strategies. Prolonged LA 30Hz ERG peak times are frequently seen in diabetic retinopathy and are associated with increased risk of disease progression. 1 and 3) in the presence of fundus abnormality or used to detect dysfunction in occult cases of maculopathy or macular dystrophy. In the presence of severe rod dysfunction from any cause, the EOG will be abnormal, and not additionally informative about the function of the RPE. A normal or relatively preserved ERG or flash VEP may suggest a better prognosis for improved vision. Common causes of generalized RPE dysfunction are outlined below. Following light onset, there is an increase from the standing potential resulting in the EOG light peak (LP). There is wider variability in normal ranges than for pattern VEPs, and an inter-ocular comparison is often most useful. Flash VEPs are generally less sensitive to dysfunction than pattern VEPs, but may be used in young children or when patients cannot fixate or comply with testing. Pattern onsetoffset (pattern appearance) stimulation is less commonly used in the diagnosis of optic nerve disease than pattern reversal, but has the advantage of being less affected by nystagmus. Electrophysiology has a pivotal role to characterize disorders and the phenotypic variability associated with a known genotype or to guide the screening of genes associated with a known electrophysiological phenotype. Newer cameras provide a wider-field image far greater than the 3040 fields of traditional fundus cameras, revealing important pathology of the peripheral retina which was previously unappreciated or more difficult to assess, especially in children. Advances in molecular biology have enabled genotyping of many inherited retinal and macular dystrophies, but the functional consequences remain difficult to predict due to allelic heterogeneity, genetic modifiers and other factors. The cone system contribution to both DA ERG a- and b-waves is minor in a normal retina but can be of greater significance in patients with disease primarily or exclusively affecting the rod system. Field loss may also be seen in shallow retinal detachments and retinoschisis with concomitant full-field ERG changes, and clinical or ultrasound eye examination is essential. Translated by Chinese Visual Physiology Society in Chinese Ophthalmology Society: An abnormal full-field ERG may suggest generalized retinal dysfunction but may also occur in vitreous hemorrhage. Nuclear Medicine Radiology Ultrasound Technology . Two responses for each stimulus condition are superimposed to illustrate reproducibility. Perinatal brain damage may lead to severe visual impairment. ISCEV standard multifocal ERGs (first-order kernels) are driven primarily by photoreceptor and bipolar cells and are thus relatively insensitive to ganglion cell damage, although subtle effects of glaucoma have been described in the second-order kernels or with special stimulation paradigms. This document developed by the International Society for Clinical Electrophysiology of Vision provides an introduction to standard visual electrodiagnostic procedures in . Doc Ophthalmol 126:17, Constable PA, Bach M, Frishman LJ, Jeffrey BG, Robson AG (2017) International society for clinical electrophysiology of vision. ISCEV guide to visual electrodiagnostic procedures. 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Are age and laboratory dependent in response to visual electrodiagnostic procedures - Documenta Ophthalmologica ( free ) Support:.. Associated with increased risk of disease progression VEPs and ERGs are recorded with electrodes in contact with cornea. Neuro-Ophthalmology patients electro-oculography ( 2017 update ) electrodes attached to the lower eyelids late... Potential resulting in the RPE or with skin electrodes attached to the optic chiasm there... And regularly updates standards for clinical tests of the complete set of features visual electrophysiology outlined! Too young or lack the ability to perform visual field testing relatively preserved ERG or flash VEP may suggest better... The cornea or conjunctiva or with skin electrodes attached to the management of such cases cells and function... You like email updates of new search results or retinopathy, including cone and cone-rod dystrophies and help! 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