|Year : 1994 | Volume
| Issue : 4 | Page : 211-212
Alport's syndrome : A case report
B Jayaprasad, KR Sathish, N Chandrasekhar, NS Upadhyaya, S Mehta
Department of Ophthalmology, OEU Institute of Ophthalmology, Kasturba Medical College, Manipal, India
Department of Ophthalmology, OEU Institute of Ophthalmology, Kasturba Medical College, Manipal
Source of Support: None, Conflict of Interest: None
|How to cite this article:|
Jayaprasad B, Sathish K R, Chandrasekhar N, Upadhyaya N S, Mehta S. Alport's syndrome : A case report. Indian J Ophthalmol 1994;42:211-2
Alport's syndrome is considered to be a widespread disorder of basement membrane, clinically characterised by haematuric nephritis, sensoneural deafness and ocular manifestations. The chief ocular findings include anterior lenticonus,  cataract, central and midperipheral retinal flecks.  Other ocular changes include corneal arcus, recurrent corneal erosion, posterior lenticonus, posterior polymorphus dystrophy and macular degeneration.
We describe here the detailed ocular findings and the systemic problems of a case of Alport's syndrome. The current understanding of the clinical features and aetiopathogenesis are discussed.
| Case report|| |
A 23-year-old female presented with progressive renal illness since childhood. She gave history of recurrent episodes of oedema of the face and feet. For the last 2 years she had attacks of gross haematuria. Based on a diagnosis of nephrotic syndrome, the patient was treated elsewhere with systemic steroids several times previously. A renal biopsy done 5 years earlier showed diffuse mesangial proliferation with focal thickening. Her only brother had died of chronic renal disease at the age of seventeen. There was no other similar illness in the family.
At the time of presentation her main complaint was fatiguability. Systemic evaluation was normal except for anaemia. Her biochemical workup revealed increased blood urea (123 mg/dl) and serum creatinine (8.7 mg/dl). There was borderline hyponatremia and hypokalemia. Urine examination showed proteinuria and microscopic haematuria. Bilateral small kidneys (8.5 X 3.8 cm right; 8.5 X 3.6 cm left) with grade 2 parenchymal changes were noted on ultrasonography. Audiometry detected a bilateral moderate sensoneural hearing loss.
Defective distant vision, telecanthus and 45 degree alternate divergent squint with 'V' phenomenon were the only ocular complaints, for which, she has been using spectacles for the last five years. Her visual acuity was 6/60 in both eyes improving to 6/18 with -2.5 sph/-2.0 cyl 15 degrees axis in the right eye and to 6/24 with -3 sph/-2.0 cyl 160 degree axis in the left eye.
Slit-lamp examination revealed anterior lenticonus [Figure - 1] and posterior subcapsular cataract in both the eyes. Multiple white flecks were detected in the macula sparing the foveolar and parafoveal regions. The peripheral fundus was apparently normal.
| Discussion|| |
The presence of anterior lenticonus  and retinal flecks in the macula  and midperipheral fundus appear to be specific for Alport's syndrome. In the case presented, white flecks were seen only in the macula. The flecks, however, may increase and involve the periphery with advancement in age.
Peripheral retinal flecks  have been reported less frequently in Alport's syndrome. They tend to spare the retinal vessels. They are considered to be in the retinal pigment epithelium. and angiography shows tiny hyperfluorescent window defects. The flecks in the macula and midperiphery probably have separate pathogenesis.
The other ocular findings which have been reported sporadically include recurrent corneal erosion, arcus juvenile, punctate keratopathy, lattice dystrophy, posterior polymorphous dystrophy, cataract (polar, subcapsular, cortical, lamellar), posterior lenticonus, anisocoria, heterochromia, iris atrophy, and retinal telengiectasia.
Majority of the cases of Alport's syndrome show sex-linked dominant type of inheritance though autosomal dominant and autosomal recessive inheritance patterns are occasionally reported. The disease is thought to be a widespread disorder of basement membranes. The characteristic alteration in the ultrastructure of the glomerular basement membrane is an irregular thickening of the basal lamina.
The ophthalmologist plays an important role in the early detection of this syndrome. Any young patient with a chronic renal disease should have a careful ophthalmologic evaluation.
| References|| |
Arnott, Crawfurd, Toghill. Anterior lenticonus and Alport's syndrome. Br J Ophthalmol 50:390, 1966.
Govan AA. Ocular manifestations of Alport's syndrome: a hereditary disorder of basement membranes? Br J Ophthalmol 67:493-503, 1983.
Nielson CE. Lenticonus anterior and Alport's syndrome. Acta Ophthalmol 56:518-530, 1978.
Polack BCP, Hogewind BL. Macular lesions in Alport's disease. Am J Ophthalmol 84:532-535, 1977.
Peterson WS, Albert DM. Fundus changes in the hereditary nephropathies. Trans Am Acad Ophthalmol Otolaryngol 78:762-771, 1974.
[Figure - 1]