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Atypical retinopathy in patients with nephronophthisis type 1: an uncommon ophthalmological finding
Author(s) -
Kang Hee Gyung,
Ahn Yo Han,
Kim Jeong Hun,
Ha IlSoo,
Yu Young Suk,
Park YongHoon,
Cheong Hae Il
Publication year - 2015
Publication title -
clinical and experimental ophthalmology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.3
H-Index - 74
eISSN - 1442-9071
pISSN - 1442-6404
DOI - 10.1111/ceo.12469
Subject(s) - medicine , nephronophthisis , retinopathy , optometry , ophthalmology , dermatology , endocrinology , diabetes mellitus , phenotype , gene , biochemistry , chemistry
Background Progressive retinal degeneration without retinal pigmentation has been repeatedly observed in K orean nephronophthisis ( NPHP ) type 1 patients with a total homozygous deletion of NPHP1 . Design Retrospective case series. Participants Patients with clinical diagnosis of NPHP and genetic diagnosis of total deletion of NPHP1 ( n = 5) were included in this study. Methods Patients 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 Measure Ophthalmological findings in NPHP type 1 patients. Results Five 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 S targardt‐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 . Conclusions We report the unexpectedly common retinal involvement of NPHP type 1 with an additional MALL deletion in a K orean cohort.