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Oculocutaneous albinism.
Grønskov K, Ek J, Brondum-Nielsen K. Grønskov K, et al. Orphanet J Rare Dis. 2007 Nov 2;2:43. doi: 10.1186/1750-1172-2-43. Orphanet J Rare Dis. 2007. PMID: 17980020 Free PMC article. Review.
Clinical manifestations include various degrees of congenital nystagmus, iris hypopigmentation and translucency, reduced pigmentation of the retinal pigment epithelium, foveal hypoplasia, reduced visual acuity usually (20/60 to 20/400) and refractive errors, color v …
Clinical manifestations include various degrees of congenital nystagmus, iris hypopigmentation and translucency, reduced pigme …
Waardenburg syndrome: iris and choroidal hypopigmentation: findings on anterior and posterior segment imaging.
Shields CL, Nickerson SJ, Al-Dahmash S, Shields JA. Shields CL, et al. JAMA Ophthalmol. 2013 Sep;131(9):1167-73. doi: 10.1001/jamaophthalmol.2013.4190. JAMA Ophthalmol. 2013. PMID: 23868078
Ocular features (7 patients) included telecanthus in 5 (71%), synophrys in 2 (29%), iris hypopigmentation in 5 (71%), and choroidal hypopigmentation in 5 (71%) patients. No patient had muscle contractures or Hirschsprung disease. Visual acuity was 20/20 to 20/50 in …
Ocular features (7 patients) included telecanthus in 5 (71%), synophrys in 2 (29%), iris hypopigmentation in 5 (71%), and chor …
Oculocutaneous albinism type 1A: a case report.
Karaman A. Karaman A. Dermatol Online J. 2008 Nov 15;14(11):13. Dermatol Online J. 2008. PMID: 19094851 Review.
Clinical manifestations include various degrees of congenital nystagmus, iris hypopigmentation and translucency, reduced pigmentation of the retinal pigment epithelium, foveal hypoplasia, reduced visual acuity and refractive errors, color vision impairment, and prom …
Clinical manifestations include various degrees of congenital nystagmus, iris hypopigmentation and translucency, reduced pigme …