Various degrees of retinal atrophy are also present. [centogene.com]

The genetic cause for Leber congenital amaurosis in this patient is presently under investigation, AIPL1 being the strongest candidate. [medscape.com]

Clinical presentation COD presents with loss of central vision, photophobia and colour vision disturbance. Since cone function is usually initially normal, nystagmus is often absent. [bjo.bmj.com]

In some cases, temporal atrophy of the optic nerve is present. Nystagmus is associated with early-onset severe cone dystrophy. [jamanetwork.com]

Myopic fundus changes were variably present in LUSG03 V:5, V:7 (A) and LUSG04 IV:1, IV:4, and IV:5 (B), including tilted optic disc, alpha zone atrophy, mild temporal disc pallor, and parapapillary RPE thinning consistent with early staphyloma formation [iovs.arvojournals.org]

• Asymptomatic

  Since cone dystrophy is hereditary and can be asymptomatic early on in the disease process, ERG is an invaluable tool in the early diagnosis of patients with positive family histories. Cone dystrophy in general usually occurs sporadically. [en.wikipedia.org]

  Asymptomatic subject A IV/2 showed increased levels of autofluorescence at the fovea, with little to see on funduscopy (Figure 2B). [jamanetwork.com]

  Asymptomatic family members received genetic counselling prior to genetic testing. [nature.com]

• Lymphedema

  Mutations in KIF11 cause autosomal-dominant microcephaly variably associated with congenital lymphedema and chorioretinopathy. Am J Hum Genet 90, 356–362, https://doi.org/10.1016/j.ajhg.2011.12.018 (2012). [nature.com]

• Vascular Disease

  Patients were excluded if they had an obvious syndromic retinal disease, age-related macular degeneration, central serous retinopathy, autoimmune retinopathy, or retinal vascular disease. [nature.com]

• Photophobia

  Patients affected with BSS usually show prominent macular involvement with decreased visual acuity, photophobia and foveomacular hyperfluorescence on fluorescein angiography. [centogene.com]

  Affected members of family A became symptomatic in their late 20s with very minimal photophobia and reduced central vision. [jamanetwork.com]

  These disorders typically present with progressive loss of central vision, colour vision disturbance and photophobia. [bjo.bmj.com]

  The first signs and symptoms of cone-rod dystrophy, which often occur in childhood, are usually decreased sharpness of vision (visual acuity) and increased sensitivity to light (photophobia). [medlineplus.gov]

  Characteristic symptoms include decreasing visual acuity, reading difficulties, photophobia and dyschromatopsia. Later, variable loss of rod function with reduced night vision and loss of peripheral visual field may occur1. [nature.com]

• Night Blindness

  In some cases, diffuse retinopathy affects the cones and rods simultaneously, resulting in both night blindness and loss of visual acuity 2. [centogene.com]

  Over time, affected individuals develop night blindness and a worsening of their peripheral vision, which can limit independent mobility. [medlineplus.gov]

  Rod-Cone Dystrophies Rod-cone dystrophies are a family of progressive diseases in which rod dysfunction, which leads to night blindness and loss of peripheral visual field expanses, is either the prevailing problem or occurring at least as severely as [medscape.com]

• Hyperpigmentation

  Funduscopy showed central hypo- and hyperpigmentations (L > R) and, in the far periphery temporal inferior, scattered bone spicule pigmentations. [nature.com]

• Suggestibility

  If other family members were affected but the pedigree was not suggestive for any of the above patterns, inheritance was classified as inconclusive. [nature.com]

  Alternatively, they may imply a posttransduction disturbance caused by either abnormalities of the cones themselves and/or their synapses.43 There is no evidence to suggest consistent selective involvement of either depolarizing (ON) or hyperpolarizing [jamanetwork.com]

  AOSLO has identified cellular variability between two related patients harbouring a single 428delTinsACAC insertion/deletion variant.54 Despite similar clinical findings, they significantly differed in the degree of photoreceptor mosaic disruption, suggesting [bjo.bmj.com]

• Excitement

  Fundus color image (first column), fundus AF with 488 nm excitation light (second column), and horizontal spectral-domain OCT (third and fourth column) are shown. Patient numbers refer to Supplementary Table 1. [nature.com]

The inclusion of fluorescein angiography in the workup of these patients is important since it can help detect many of these characteristic ophthalmoscopic features. [en.wikipedia.org]

The retinopathy was initially classified as non-syndromic due to the very mild systemic manifestations that may be too subtle to be noted in routine ophthalmologic workup. [nature.com]

[citation needed] Treatment[edit] Though there is no treatment for cone dystrophy, certain supplements may help in delaying the progression of the disease. [en.wikipedia.org]

Gene therapy encompasses multiple techniques, including gene replacement, gene editing and gene silencing, with treatment choice dependent on whether the associated sequence variant(s) leads to a loss or gain in function.97 Human treatment trials of gene [bjo.bmj.com]

An accurate diagnosis using molecular genetics is an important step to facilitate genetic counselling, advice on prognosis and participation in anticipated clinical trials.89 Patients with specific forms of COD/CORD can be advised to adopt strategies [bjo.bmj.com]

Clinical course, genetic etiology, and visual outcome in cone and cone-rod dystrophy. Ophthalmology. 2012 Apr;119(4):819-26. doi: 10.1016/j.ophtha.2011.10.011. Epub 2012 Jan 20. Citation on PubMed [medlineplus.gov]

Clinical course, genetic etiology, and visual outcome in cone and cone-rod dystrophy. Ophthalmology 119, 819–826, https://doi.org/10.1016/j.ophtha.2011.10.011 (2012). Article PubMed Google Scholar 4. Neveling, K. et al. [nature.com]

This may not only increase the confidence in a correct molecular diagnosis, but also confirms previous rare phenotypic disease characterizations for genes infrequently involved in the pathophysiology of MD/CCRD. [nature.com]

In GUCA1A-associated retinopathy, sleeping with the lights on is advocated by some clinicians for preventing accumulation of cGMP, which otherwise occurs at night and causes photoreceptor damage. [bjo.bmj.com]