Presentation
Eyes
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Aniridia
Genotype-phenotype correlation of PAX6 gene mutations in aniridia. Hum Genome Var. 2016;3:15052. [PMC free article] [PubMed] [Google Scholar] 44. Hingorani M, Williamson KA, Moore AT, van Heyningen V. [ncbi.nlm.nih.gov]
Neurologic
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Nystagmus
Isolated foveal hypoplasia with secondary nystagmus and low vision is associated with a homozygous SLC38A8 mutation. Eur J Hum Genet. 2014;22:703–6. [PMC free article] [PubMed] [Google Scholar] 51. [ncbi.nlm.nih.gov]
Treatment
Optical coherence tomography angiography of the foveal avascular zone in children with a history of treatment-requiring retinopathy of prematurity. Retina. 2017 [Ahead of print]. doi: 10.1097/IAE.0000000000001937. [PubMed] [Google Scholar] 62. [ncbi.nlm.nih.gov]
Prevention
Prevention of retinal detachment in stickler syndrome: The cambridge prophylactic cryotherapy protocol. Ophthalmology. 2014;121:1588–97. [PubMed] [Google Scholar] [ncbi.nlm.nih.gov]