|Year : 1994 | Volume
| Issue : 2 | Page : 83-85
Leber's congenital amaurosis with nephropathy.
K Sharma, Raj Kumar Sharma, R Elhence, S Gulati, V Kher
Departments of Nephrology and Neuro-ophthalmology, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, India
Raj Kumar Sharma
Dept. of Nephrology, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Raebareli Road, Lucknow 226 002
Source of Support: None, Conflict of Interest: None
|How to cite this article:|
Sharma K, Sharma RK, Elhence R, Gulati S, Kher V. Leber's congenital amaurosis with nephropathy. Indian J Ophthalmol 1994;42:83-5
|How to cite this URL:|
Sharma K, Sharma RK, Elhence R, Gulati S, Kher V. Leber's congenital amaurosis with nephropathy. Indian J Ophthalmol [serial online] 1994 [cited 2020 Feb 25];42:83-5. Available from: http://www.ijo.in/text.asp?1994/42/2/83/25577
Association of pigmentary retinopathy and nephropathy has been described as a juvenile renalretinal syndrome with autosomal recessive inheritance. , Senior-Loken syndrome is a complicated Leber's congenital amaurosis (LCA) resulting in severe visual impairment at birth, coarse nystagmus, and extinguished electroretinography (ERG) in association with nephropathy. In the absence of dialysis and transplantation, the disease is fatal by the .2nd or 3rd decade of life. These patients are either blind from birth or early infancy. In the present case of Leber's congenital amaurosis with renal failure, there was no family history of renal or retinal manifestation of the disease. Incidentally, this is of interest as only a few sporadic cases of renal-retinal syndrome have been reported. 
| Case report|| |
A 16-year-old female presented with complaints of poor vision since birth, progressive pallor, polyuria and polydysplia since the age of nine years, bony aches and pains since one year, and poor appetite due to nausea and occasional vomiting since one year. On examination, she had light perception in both the eyes and inaccurate projection of rays. Her eyes were deeply seated with random, large amplitude, low frequency nystagmus. Slit-lamp examination revealed posterior subcapsular cataract in both eyes. Both pupils were equal in size and nonreacting. Fundus examination of both the eyes revealed pale disc with attenuated vessels. There was migration of pigment in and around the midperiphery. Macula was not clearly visible due to lenticular opacity. Her intelligence was above average. Detailed neurological examination revealed no sensory or motor abnormality. ERG showed flat recording in both eyes. Systemic examination revealed significant pallor, normal blood pressure, and no pedal oedema. Cardiovascular, respiratory, and abdominal examinations were normal. There was evidence of proximal myopathy manifested in inability to get up from sitting position.
Investigations revealed moderate renal failure (blood urea 102 mg%; serum creatinine, 8.6. mg%), anaemia (Hb, 5.6 gm%), changes of renal osteodystrophy (skeletal survey showed looser zones in radius and pelvic rim, and reduced bone density) [Figure - 1][Figure - 2], and normal chest radiogram. Urine examination showed only mild albuminuria (24 hr urine albumin 0.58 gm). Ultrasound examination showed bilaterally contracted kidneys with smooth outline and increased echogenicity. A small cortical cyst was seen in the right kidney. Contrast enhanced CT scan and magnetic resonance imaging (MRI) of the abdomen confirmed the findings of ultrasound examination.
The patient had been studying in a blind school and living independently until recently, when symptoms due to uraemia and anaemia necessitated hospitalization. Her performance in school was very good. In view of the advanced renal failure, she has been started on regular maintenance haemodialysis and is being investigated for renal transplantation.
| Discussion|| |
The presenting symptoms of pigmentary retinal dysplasia are progressive decrease in vision leading to blindness and nystagmus. The present case had all the features of the Leber's congenital amaurosis and was visually handicapped since early infancy. The manifestations of renal component of the LCA are insiduous onset of symptoms, polyuria, polydypsia, minimal urinary sediment abnormality, absence of hypertension, severe anaemia, and slow progressive renal failure in the first decade of life resulting in the end-stage renal failure in the 2nd decade. The renal manifestations are suggestive of interstitial renal disease as seen in juvenile nephronophthisis and medullary cystic disease.
Leber's congenital amaurosis is the most severe ocular manifestation of renal-retinal dysplasia and results in blindness during infancy. Sectoral retinitis pigmentosa which is characterized by the sectoral distribution of the retinal pigment and retinitis punctata albescens are milder manifestations of renalretinal dysplasia. ,
Electroretinography and visual field assessment are important tests for functional evaluation of these patients. Electroretinographic study is also a useful diagnostic investigation to detect asymptomatic carriers in a family and to investigate cases of renal failure with diagnosis and nephronophthisis-medullary cystic disease.  The family members of this patient did not have any ERG abnormalities, retinal changes, or evidence of renal disease. Medullary cystic complex consists of medullary cystic disease and nephronophthisis. About 73% of these patients have medullary cysts and all show interstitial nephritis. Our patient did not have any evidence of medullary cysts on ultrasound, CT scan, and MRI of abdomen. The major manifestation of the disease entity are small kidneys and progressive renal failure in young patients. Sonography shows small, smooth kidneys with increased echogenicity.  The medullary cysts are generally too small to be resolved by ultrasound. They are characterized by salt wasting nephropathy, anaemia, progressive renal failure, and growth retardation.  Our patient had severe renal osteodystrophy related to the renal failure and interstitial nephropathy.
Cataracts have been reported in 52% of patients with Leber's congenital amaurosis, forming in the first decade of life. Cortical cataract is found in 68% and posterior subcapsular cataracts in 18% of patients with cataract.  Our patient had posterior subcapsular cataract. The renal-retinal dysplasia is inherited as autosomal recessive syndrome. , A sporadic case of renal-retinal syndrome with sensorineural hearing loss, nuclear cataract and renal involvement has been reported.  Interestingly, our case appears to be sporadic with no family history of renal or retinal disease. It is important to recognize genetic variants of the renal-retinal dysplasia as the affected individual would require renal replacement therapy for the endstage renal failure. Also, it is important to avoid a renal transplant from a family member at risk of developing the disease. An ERG could be of help in identifying heterozygous carriers in the family.
| References|| |
Senior B, Friedman AI, Braudo, JL. Juvenile familial nephropathy with tapeto-retinal degeneration. Am J Ophthalmol. 52:625, 1961.
Lokess AC, Hanssen 0, Halvorsen S, et al. Hereditary renal dysplasia and blindness. Acta Paediatr Scand. 50:177-184, 1961.
Kobayashi Y, Hiki Y, Shigematsu H, et al. Renal retinal dysplasia with diffuse glomerular cysts. Nephron.39:201-205, 1985.
Godel V, laina A, Nemet P, et al. Phenotypic variations in renal-retinal dysplasia. Metabolic Pediatr Ophthalmol. 4:161-163, 1980.
Godel V, Iaina A, Nemet P, et al. Sector retinitis pigmentosa in juvenile nephronopthisis. Br J Ophthalmol. 64:124-126, 1980.
Polak BCP, Van Lith FHM, Delleman JW, et al. Carrier detection in tapetoretinal degeneration in association with medullary cystic disease. Am J Ophthalmol. 95:487-494, 1983.
Davidson AJ,(ed). Radiology of the kidney. Philadelphia, WB Saunders Company, 1985.
Roizenblatt J, Cunha LAP. Leber's congenital amaurosis with associated nephronophthisis. J Pediatr Ophthalmol & Strabismus. 17:154-157, 1980.
Karel J. Clinical picture of congenital diffuse tapetoretinal degeneration in 42 cases. Acta Universtatis Carolinae Medica [Mongil (Prague). 15:259-335, 1969.
[Figure - 1], [Figure - 2]