Atypical retinopathy in patients with nephronophthisis type 1: an uncommon ophthalmological finding

E-ISSN： 1442-9071|43|5|437-442

ISSN： 1442-6404

Source： CLINICAL & EXPERIMENTAL OPHTHALMOLOGY, Vol.43, Iss.5, 2015-07, pp. : 437-442

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Abstract

AbstractBackgroundProgressive retinal degeneration without retinal pigmentation has been repeatedly observed in Korean nephronophthisis (NPHP) type 1 patients with a total homozygous deletion of NPHP1.DesignRetrospective case series.ParticipantsPatients with clinical diagnosis of NPHP and genetic diagnosis of total deletion of NPHP1 (n = 5) were included in this study.MethodsPatients with clinical diagnosis of NPHP (n = 57) were screened for total deletion of NPHP1 by polymerase chain reaction (PCR) for the 20 exons of NPHP1. The clinical and ophthalmological findings of NPHP type 1 patients were reviewed. Additionally, four exons of MALL, a gene adjacent to NPHP1, were amplified using PCR, and amplification failure was considered a homozygous deletion encompassing the corresponding exons.Main Outcome MeasureOphthalmological findings in NPHP type 1 patients.ResultsFive of 57 patients with clinical diagnosis of NPHP were diagnosed as having NPHP type 1 by genetic analysis. Chronic renal failure was diagnosed in these five patients at 7.9–15.4 years of age. All the patients with NPHP type 1 had progressive decline in visual acuity with various ages of onset (2–17 years). Ophthalmological examinations revealed unexpected findings of retinopathy with large or small flecks, which was compatible with Stargardt‐like retinopathy or albipunctatus retinopathy in majority of them (four of five). The genetic study revealed an additional deletion of exon 1 of the adjacent gene MALL.ConclusionsWe report the unexpectedly common retinal involvement of NPHP type 1 with an additional MALL deletion in a Korean cohort.