To present detailed phenotypic and molecular findings in four patients from four families with atypical, mild, recessive RPE65-related retinal dystrophy and discuss potential implications for gene replacement therapy. [ncbi.nlm.nih.gov]

Inheritance - congenital achromatopsia is transmitted in an autosomal-recessive trait Presentation - patients present in early childhood with nystagmus, abnormal visual behaviour or photophobia. Acuity is less than 20/200. [patient.info]

Homepage Rare diseases Search Search for a rare disease Bothnia retinal dystrophy Disease definition Bothnia retinal dystrophy is a rare form of retinal dystrophy, seen mostly in Northern Sweden, presenting in early childhood with night blindness and [orpha.net]

• Pallor

  […] localized masking of the choroidal fluorescence in the perifoveal area. ( D ) Patient III:6: fundus photography showing bilateral bull’s-eye maculopathy, with a well-demarcated area of RPE atrophy at the right macula, and bilateral temporal optic disc pallor [iovs.arvojournals.org]

  In addition to the retinal findings, temporal pallor of the optic disc is commonly observed. As expected, visual field testing in cone dystrophy usually reveals a central scotoma. [en.wikipedia.org]

  Attenuated retinal vessels, waxy optic disc pallor, cystoid macular edema and fine pigmented vitreous cells may be found. Molecular testing for specific forms of Usher’s syndrome will confirm the diagnosis. [atlasrleye.com]

  In 3 patients (7%), a moderately well-defined area of increased autofluorescence was observed at the center of the macula, where only mild pallor could be detected biomicroscopically ( Figure 2 A-B). [jamanetwork.com]

  During the initial stage of disease, the fundus may be normal or show fine macular lesions and pallor of the optic disc. In the later stages, the fundus shows pigmentary deposits resembling bone spicules, frequently in the macular area. [genedx.com]

• Short Stature

  The third had a missense mutation affecting a highly conserved residue (p.Cys61Tyr) and was short (below the 3rd percentile) and obese (50th percentile for weight despite short stature). [bjo.bmj.com]

  stature, glomerulonephritis and RP; the POC5 gene is ubiquitously expressed and codes for a highly-conserved protein which localizes to centrioles and is required for normal retinal development Weisz Hubshman 18 AHR ; 600253 7p21.1 recessive retinitis [sph.uth.edu]

  […] rib thoracic dysplasia with polydactyly, Cone-Rod dystrophy, autosomal recessive AR 4 8 IFT140 Short -rib thoracic dysplasia with or without polydactyly, Asphyxiating thoracic dysplasia (ATD; Jeune) AR 37 54 IFT172 Retinitis pigmentosa, Short -rib thoracic [blueprintgenetics.com]

• Night Blindness

  blindness, congenital stationary GNAT2 Achromatopsia GPR98 recessive Usher syndrome GPR125 recessive retinitis pigmentosa GPR179 Night blindness, congenital stationary GRK1 Oguchi disease GRM6 Night blindness, congenital stationary GRN Neuronal Ceroid [molecularvisionlab.com]

  Researchers from The Scripps Research Institute (TSRI), in Florida, found that mice lacking α2δ4 developed the disease, which is characterised by defective colour vision and night blindness. [aop.org.uk]

  Clinical features include mild photophobia, progressive loss of central vision, night blindness, and hyperreflectivity of nerve and ganglion cell layers. [uniprot.org]

  blindness, congenital stationary AD/AR 4 7 GNAT2 Achromatopsia AR 7 14 GNB3 Night blindness, congenital stationary, type 1H AR 3 6 GNPTG Mucolipidosis AR 28 45 GPR179 Night blindness, congenital stationary AR 13 15 GRM6 Night blindness, congenital stationary [blueprintgenetics.com]

• Photophobia

  Case 2 describes a girl with marked nystagmus, photophobia, and retinal changes in both eyes with short and stubby fingers tapering at the distal phalanges. The electroretinograms were nonrecordable in each eye. [ncbi.nlm.nih.gov]

  Clinical features include mild photophobia, progressive loss of central vision, night blindness, and hyperreflectivity of nerve and ganglion cell layers. [uniprot.org]

• Peripheral Vision Loss

  Most people experience gradual peripheral vision loss (or “tunnel vision”), and difficulties with poor illumination and night vision. Central vision is usually unaffected, so the person may still be able to read. [centreforeyehealth.com.au]

  peripheral vision Loss of vision in a particular visual field Nystagmus, a rapid, involuntary oscillatory motion of the eyeball Photophobia, an abnormal sensitivity to or intolerance of light. [childrenshospital.org]

  These features are typically followed by impaired color vision (dyschromatopsia), blind spots (scotomas) in the center of the visual field, and partial side (peripheral) vision loss. [icdlist.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]

Diagnosis, Workup and Treatment The differential diagnosis of an otherwise healthy young male presenting with nyctalopia and macular and midperipheral subretinal flecks is the family of fleck retinal dystrophies including Stargardt disease, fundus flavimaculatus [reviewofophthalmology.com]

Young people seek treatment quite often, too. Among the causes of the disease there are: thyroid and cardiovascular diseases, injuries, pregnancy. [visus-novus.ru]

Carbonic anhydrase inhibitor (CAI) treatment may reduce the size of MSC and improve vision. METHODS: A retrospective study of patients with retinal dystrophy with MCS seen between 2009 and 2013 at two sites. [ncbi.nlm.nih.gov]

QLT's oral synthetic retinoid granted orphan drug designation for treatment of Leber Congenital Amaurosis QLT Inc. today announced that the U.S. [news-medical.net]

The main aim of this treatment is retinal consolidation. The laser is a unique surgical instrument which has opened new abilities to ophthalmic surgeons. [en.excimerclinic.ru]

Prognosis - there is no progression. [patient.info]

Identifying the causative genetic mutation facilitates genetic counselling, carrier testing and prenatal/pre-implantation diagnosis, and often leads to a clearer prognosis. [ncbi.nlm.nih.gov]

Prognosis - Doyne honeycomb retinal dystrophy Not supplied. Treatment - Doyne honeycomb retinal dystrophy Not supplied. Resources - Doyne honeycomb retinal dystrophy Not supplied. [checkorphan.org]

Heredity was the main etiology, and consanguinity was high. [ncbi.nlm.nih.gov]

Etiology SECORD is genetically heterogeneous, being caused by many genes including those causing LCA ( ABCA4 (1p22), ADAMTS18 (16q23), AIPL1 (17p13.1), BEST1 (11q12), CRB1 (1q31.3), CRX (19q13.3), GUCY2D (17p13.1), IMPDH1 (7q31.3-q32), IMPG1 (6q14.2-q15 [orpha.net]

Many of the dystrophies are the subject of clinical intervention trials, and nation-wide epidemiological data can help assess the future need for treatment. [ncbi.nlm.nih.gov]

Summary Epidemiology The prevalence is hard to predict as many SECORD patients have been previously diagnosed as Leber congenital amaurosis (LCA) patients. [orpha.net]

Epidemiology Frequency United States Macular corneal dystrophy is uncommon, but areas with the highest prevalence include parts of the United States. [emedicine.medscape.com]

Molecular genetic testing aids in the diagnosis and elucidation of pathophysiology. Carbonic anhydrase inhibitors may promote resolution of the cysts resulting in visual improvement. [journals.lww.com]

Rab escort protein 1 (REP1) in intracellular traffic: a functional and pathophysiological overview. Ophthalmic Genet 2004;25:101-110. 4. MacLaren RE, Groppe M, Barnard AR et.al. [retina.com.au]

General Pathology and Pathophysiology Currently, it is believed that Best disease represents a primary disturbance of the RPE. [eyewiki.aao.org]

Pathophysiology The metabolic defect for macular corneal dystrophy appears to be an error in the synthesis of keratan sulfate, which leads to accumulation of glycosaminoglycans in the cornea. [emedicine.medscape.com]

Advances over the last two decades in gene identification and cell biology techniques have led to a step change in our understanding providing real insights into the genetic defects and molecular pathophysiological mechanisms that underlie these conditions [ncbi.nlm.nih.gov]

The World Health Organisation Programme for the Prevention of Blindness (WHO/PBL) examination record for children was used. Data was analysed by the SPSS version 17 statistical software. [ncbi.nlm.nih.gov]

Prevention There are no ways to prevent retinal dystrophy. Parents may choose genetic testing before deciding to have children who would inherit these disorders. Contact Us Please contact us at (239)390-3339 or click here to use our contact form [retinaandmacula.com]

Symptoms - Doyne honeycomb retinal dystrophy Causes - Doyne honeycomb retinal dystrophy Prevention - Doyne honeycomb retinal dystrophy Not supplied. [checkorphan.org]

[…] adequate visualization of the retina of the study eye including, but not limited to, corneal degeneration that cannot be resolved prior to implantation, Has any disease or condition of the anterior segment of the study eye that prevents adequate physical [clinicaltrials.gov]

Columbia researchers work on preventing blindness from age-related macular degeneration and Stargardt's disease. Columbia University Medical Center. Press release. May 2011. [allaboutvision.com]