Sector retinitis pigmentosa in juvenile nephronophthisis.

Abstract

SUMMARY In a patient with juvenile nephronophthisis, sector retinitis pigmentosa was found as an extrarenal manifestation, establishing a hitherto undescribed variety of retinal degeneration occurring in this disorder. The retinal function in this case was identical with that in the classic type of sector retinitis pigmentosa, namely, subnormal ERG amplitudes but normal cone and rod implicit times. The range of the retinal findings and their autosomal recessive transmission are discussed. Paucity of information makes it difficult to elucidate the basic genetic defect operating in this condition.Juvenile nephronophthisis (Fanconi et al., 1951) and medullary cystic disease (Smith and Graham, 1945) are hereditary conditions characterised clinically by failure to thrive, anaemia, hyposthenuria, and salt craving, followed by early uraemia. The consensus of most observers is that these diseases are identical, and owing to their clinical and pathological similarities they have been grouped together (Mongeau and Worthen, 1967).The presence of extrarenal manifestations in juvenile nephronophthisis is obvious (Mainzer et al., 1970;Boichis et al., 1973), and the most frequent allied condition is tapeto-retinal degeneration (Senior et al., 1961). There is ample evidence of such an association in familial cases, and it appears to be due to a pleiotropic effect of the gene involved and not a coincidence of symptoms. A common genetic background for the renal and retinal disorders has been postulated and autosomal recessive inheritance invoked.We dialysis. The onset of her renal disorder began 7 years earlier with a normocytic anaemia. Polydipsia and polyuria were observed clinically, and tests of kidney function showed impaired urinary concentrating abilities. Later a high blood urea and serum creatinine were found. A drip intravenous pyelogram showed poor excretion, though there was no anatomical defect. As kidney function deteriorated, a percutaneous kidney biopsy was performed. Findings included scattered medullary cysts and extensive glomerular destruction with interstitial fibrosis and hyalinisation. These histological findings confirmed the clinical suspicion of juvenile nephronophthisis, and the patient was signed up for a haemodialysis programme and future kidney transplant.She had no visual complaints and was unaware of any ocular disease. An audiogram indicated normal hearing function. She had normal visual acuity and the anterior segments were within normal limits. Ophthalmoscopy disclosed normal optic discs and free maculae. The central parts of the retinal vessels were of normal calibre. Symmetrical bonecorpuscule-like pigment clumps were found in the lower temporal quadrants of both eyes (Fig. 1). These abnormal areas of pigmentation were situated in the region of the equator and anterior to it. The retinal vessels were narrowed and disappeared towards the periphery. The pigment epithelium was atrophied. Colour vision was normal, but in the visual fields large scotomas were found bilaterally in the upper nasal qu...

Renal Retinal Dysplasia with Diffuse Glomerular Cysts

“…Later, Meier and Hess [6] called this specific association of juvenile nephronophthisis-cystic renal medulla complex with retinitis pigmentosa renal retinal dysplasia. And since that time this condition was reported by other authors [7][8][9].…”

“…Renal retinal dysplasia had been considered heredi tary in nature, the majority of cases being inherited in an autosomal recessive pattern [7,9], Sporadic cases have never been reported previously, although some cases [11] were occasionally reported to occur in sporadic fashion in juvenile nephronophthisis-cystic renal medulla com plex.…”

Atypical sector pigmentary dystrophy

“…In some cases there is a rod-cone, in other cases a cone-rod type ERG disturbance (18). The ERG implicit times (20) and the ERG culmination times (6) are normal. Sometimes the ERG decrease is more pronounced than expected on the basis of the fundusaspect (23,42).…”

“…Occlusion of the posterior ciliary artery may mimic atypical SRP, but then the EOG may be normal (54). SRP is reported in combination with chronic disc edema (13), juvenile nephronophthisis (20), congenital achromatopsia (22,53), neurofibromatosis (32), vitiligo (35), chronic angle-closure glaucoma (37), Morgagni syndrome (45, cited by Bisantis) and atypical Laurence-Moon-Bardet-…”

Cataract surgery in SeniorÞenLoken syndrome is beneficial despite severe retinopathy

“…8 A single case report describes a sector retinitis pigmentosa with subnormal but detectable ERG. 9 Recently, a patchy retinopathy without visual symptoms has been described with nephronopthisis in families with deletions of the NPH1 gene. 10 ERG abnormalities have also been reported in asymptomatic heterozygotes.…”