Hereditary renal-retinal dysplasia

Abstract

Juvenile nephronophthisis and medullary cystic diseases are inherited kidney disorders leading to end stage uremia. As these diseases appear to be identical, they were grouped together in nephronophthisis-cystic renal medulla complex. Among its extrarenal manifestations, tapeto-retinal degeneration is the most frequent allied condition. This specific association of the renal and retinal conditions, suggesting a genetic background, is called hereditary renal-retinal dysplasia and is transmitted as an autosomal recessive trait. There are some variations in the type of the retinal degeneration in renal-retinal dysplasia and similar basic genetic mechanisms may results in Leber's congenital amaurosis, or retinitis pigmentosa, central retinal degeneration or stationary congenital night blindness. Pleiotropism seems to be responsible for the spectrum of these anomalies. Occasional expression in the heterozygous state by urinary concentrating disabilities or electroretinographic impairments were documented. The nature and pathogenesis of renal-retinal dysplasia remain a debated issue, but some evidence supports the possibility of an inborn error of metabolism causing the basic defects.

Use of En Face Swept-Source Optical Coherence Tomography Angiography in Identifying Choroidal Flow Voids in 3 Patients With Birdshot Chorioretinopathy

“…However, early identification and treatment can substantially improve visual prognosis . Indocyanine green angiography (ICGA) is one of the most sensitive methods for early detection of disease, identifying hypocyanescent lesions that are more numerous than the hypopigmented spots or late choroidal scars seen on fundus examination . While ICGA is important for assisting with early diagnosis, a noninvasive imaging modality that provides similar diagnostic information without the risks of ICGA would be an important advance in patient care .…”

New autosomal-recessive syndrome of leber congenital amaurosis, short stature, growth hormone insufficiency, mental retardation, hepatic dysfunction, and metabolic acidosis

“…It is a heterogenous disorder often associated with anomalies of the central nervous system [Dekaban, 1972;Steinberg et al, 1992], renal system [Godel et al, 1980], and other abnormalities [de Laey, 1991]. LCA also occurs in various syndromes (Senior-Loken syndrome [LCA and nephronophthisis], SaldinoMainzer syndrome [LCA, nephronophthisis, cerebellar ataxia, and skeletal anomalies], LCA with cerebellar hypoplasia, and LCA with cardiomyopathy [de Laey, 1991]) and in some peroxisomal disorders [Wanders et al, 1988;Ek et al, 1986].…”