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Kari E Branham, Naheed W Khan, Jillian Huang, Thiran Jayasundera, John R Heckenlively; Phenotypic characterization of patients with PRPH2 mutations. Invest. Ophthalmol. Vis. Sci. 2014;55(13):3273.
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To describe the phenotypic and pedigree characteristics in patients with mutations in PRPH2 and to identify characteristic patterns to guide clinicians in diagnosis and genetic testing.
A retrospective chart review was done on 21 patients from 18 families with PRPH2 mutations seen at the Kellogg Eye Center. Clinical information including structure of a three generation pedigree, ophthalmic photography, visual acuity, ERG, GVF, and fundus findings was analyzed.
Patients with PRPH2 mutations showed a wide range of clinical phenotypes including Retinitis Pigmentosa (N=1), Pattern Dystrophy (N=4), Maculopathy (N=6),Cone-Rod Dystrophy (N=1), and Stargardt-like macular dystrophy or retinal flecks (N=9). In 6/18 (33%) of the families, only a single person was identified as having a retinal dystrophy. In three additional families, a second family member was affected with a retinal disease (2nd cousin with RP, brother with retinal dystrophy, mother with AMD), although the pedigree was not necessarily consistent with autosomal dominant (AD) inheritance. In the remainder of families (N=9), pattern of inheritance was consistent with AD inheritance. Fourteen patients retained good visual acuity (20/50 or better OU) into adulthood (age range 36-74, mean 50). Among those who retained good VA, six patients (43%) had extensive flecks or yellowish punctate dots similar to the retinal findings seen in Stargardt disease, described previously as a multifocal pattern dystrophy.
Although mutations in PRPH2 are associated with an AD condition, inheritance in 50% of our families was not necessarily consistent with AD inheritance. Based on the fact that several members of our cohort with PRPH2 mutations do not have a decrease in visual acuity or abnormal visual fields, it is possible that other unexamined members of the family carry the mutation, but have minimal or no clinical signs of disease. In patients with extensive pisciform flecks(similiar to Stargardt disease), but good visual acuity retained into adulthood, PRHP2 should be considered as a cause of disease especially in families with autosomal dominant inheritance. More importantly, PRPH2 should also be considered as a cause of disease in individuals with these clinical characteristics even if they are isolated cases of disease.
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