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Retinal cone dystrophy 3B

From Wikipedia, the free encyclopedia
Retinal cone dystrophy 3B
SpecialtyMedical genetics
SymptomsOcular abnormalities
ComplicationsVision impairment, colorblindness
Usual onsetMid/late childhood-early adulthood
DurationLife-long (most of the symptoms)
CausesGenetic mutation
Preventionnone
Frequencyvery rare, only 34 cases have been described worldwide.
Deaths-

Retinal cone dystrophy 3B is a very rare genetic disorder which is characterized by ocular anomalies. Approximately 34 cases from 20 families across the world have been described in medical literature (OMIM).[1] This disorder is associated with autosomal recessive mutations in the KCNV2 and PDE6H genes.[2][3]

Presentation

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People with the disorder often start showing symptoms when they are in their mid-late childhood-early adulthood, these symptoms are usually the following:[4]

Additional features include nystagmus.

Etimology

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This disorder was discovered by Michaelides et al., when they described 10 patients from 7 families across the world, these patients had retinal cone dystrophy, abnormally high rod responses, poor central vision, photophobia, mild nystagmus (in three patients), variable degrees of nearsightedness and astigmatism, progressive loss of visual acuity and color vision, reduced color discrimination, and other ocular symptoms, these families came from the United Kingdom, Somalia, Pakistan, Iran, and the United Arab Emirates.[5]

References

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  1. ^ "OMIM Entry - # 610356 - RETINAL CONE DYSTROPHY 3B; RCD3B". www.omim.org. Retrieved 2022-06-01.
  2. ^ Wissinger, Bernd; Dangel, Susann; Jägle, Herbert; Hansen, Lars; Baumann, Britta; Rudolph, Günther; Wolf, Christiane; Bonin, Michael; Koeppen, Katja; Ladewig, Thomas; Kohl, Susanne (February 2008). "Cone dystrophy with supernormal rod response is strictly associated with mutations in KCNV2". Investigative Ophthalmology & Visual Science. 49 (2): 751–757. doi:10.1167/iovs.07-0471. ISSN 0146-0404. PMID 18235024.
  3. ^ Vincent, Ajoy; Wright, Tom; Garcia-Sanchez, Yaiza; Kisilak, Marsha; Campbell, Melanie; Westall, Carol; Héon, Elise (2013-01-30). "Phenotypic characteristics including in vivo cone photoreceptor mosaic in KCNV2-related "cone dystrophy with supernormal rod electroretinogram"". Investigative Ophthalmology & Visual Science. 54 (1): 898–908. doi:10.1167/iovs.12-10971. ISSN 1552-5783. PMC 3880354. PMID 23221069.
  4. ^ "Retinal cone dystrophy 3B - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Retrieved 2022-06-01.
  5. ^ Michaelides, M.; Holder, G. E.; Webster, A. R.; Hunt, D. M.; Bird, A. C.; Fitzke, F. W.; Mollon, J. D.; Moore, A. T. (March 2005). "A detailed phenotypic study of "cone dystrophy with supernormal rod ERG"". The British Journal of Ophthalmology. 89 (3): 332–339. doi:10.1136/bjo.2004.050567. ISSN 0007-1161. PMC 1772537. PMID 15722315.