Indian Journal of Ophthalmology

: 1993  |  Volume : 41  |  Issue : 4  |  Page : 191--193

Ichthyosis-associated spheroid corneal degeneration in HLA-DR identical brothers

K Sharma, S Agrawal, RK Sharma 
 Departments of Neuro-Ophthalmology, Genetics, and Nephrology, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, India

Correspondence Address:
R K Sharma
Sanjay Gandhi Post Graduate Institute of Medical Sciences, Raebareli Road, Lucknow 226 002

How to cite this article:
Sharma K, Agrawal S, Sharma R K. Ichthyosis-associated spheroid corneal degeneration in HLA-DR identical brothers.Indian J Ophthalmol 1993;41:191-193

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Sharma K, Agrawal S, Sharma R K. Ichthyosis-associated spheroid corneal degeneration in HLA-DR identical brothers. Indian J Ophthalmol [serial online] 1993 [cited 2021 Jul 31 ];41:191-193
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Full Text

Ichthyosis is an inherited disorder characterized by thickening, fissuring and scaling of the skin. There are four different forms of ichthyosis, namely, icthyosis vulgaris-autosomal dominant; X-linked ichthyosis; lamellar ichthyosis-autosomal recessive; and congenital icthyosiform erythroderm. X-linked ichthyosis primarily affects the sons of heterozygous females, or carriers. Scaling is present at birth or hours afterward and is seen on neck, trunk, gluteal region and extremities. [1],[2] Various ocular lesions such as super­ficial nodular lesions, band keratopathy, increased corneal nerve visibility, and pre-descemet's opacities have been reported in X-linked ichthyosis. We report a case wherein both brothers had bilateral band-shaped keratopathy with spheroidal degeneration. Histo­compatibility testing revealed identity at DR and B loci.


Two brothers aged 32 and 36 years presented with skin lesions since birth, scoliosis since the age of 11 years, and with whitish opacities in both the eyes. A whitish spot appeared in both eyes of the elder brother at the age of ten years. The younger brother developed a similar opacity in the left eye at about ten years of age and a year later in the right eye. These opacities slowly progressed. Additionally, the younger brother gave history of corneal ulcer in the right eye about three years back. There was history of consanguineous marriage. No other family member was found to have any skin or ocular lesions.

On general examination both brothers had skin lesions characterized by large, thick scales involving the trunk, neck, gluteal region, and extremities. The face, soles, and palms were not affected [Figure 1][Figure 2]. There was scoliosis with concavity to the right in both the patients. The elder brother had visual acuity of 4/60 in the right eye and 6/60 in the left eye. The younger brother had visual acuity of 6/60 in the right eye and 6/36 in the left eye. Slit-lamp examination in the elder brother revealed band-shaped corneal opacities involving the interpalpebral area in both the eyes. These opacities consisted of yellow, globular, oily droplets limited to anterior stroma. The corneal epithelium was elevated at various places [Figure 3]. These changes were more marked in the right eye. The younger brother had similar slit-lamp findings of band keratopathy in the left eye and a maculoleucomatous corneal opacity in the right eye. Fundus examination was normal in both brothers. Skin biopsy was consistent with lesions of ichthyosis.

Histocompatibility testing revealed identity at HLA­B and DR loci (elder brother: A2 A3 B51 B44 CW3 CW7 DR5 DR7 DRQ3; younger brother: Al AW30 B51 B44 CW7 DR5 DR7 DQ3).


Ichthyosis is an inherited skin disorder characterised by thick, fissured, and scaled skin lesions. X-linked ichthyosis is characterised by dryness of the skin and scaling, which appear early in infancy and primarily involves extremities, neck, and trunk. The palms and soles are not involved. Our patients had all these features. The X-linked ichthyosis primarily affects the sons of heterozygous females or carriers. Female carriers may be phenotypically normal. [2] In the family of these two brothers none of the female members had any signs of the clinical disease. Band keratopathy has been reported in patients with X-linked ichthyosis but is not as common as the deep stromal changes. Fine, irregular, punctate opacities in deep stroma just ante­rior to Descemet's membrane of the cornea are seen commonly in the X-linked ichthyosis. Visual acuity and corneal function is generally not affected by deep corneal lesions [3],[4] Both our patients had band-shaped spheroidal degeneration in the cornea. Band-shaped keratopathy has been reported in association with various ocular conditions such as local degenerative conditions, trauma, hypercalcemia, discoid lupus erythematous, gout, tuberous sclerosis. Only few cases of familial band­shaped gelatinous corneal dystrophy and spheroid corneal degeneration in association with consanguineous marriage have been reported [5],[6] In one such case, band-shaped keratopathy changed to gelatinous guttate dystrophy after superficial keratectomy. [6] To our knowledge, there are no case reports of band-shaped spheroidal degeneration in patients of ichthyosis. Our cases had X-linked ichthyosis which could be the cause of band-shaped corneal lesions in the two brothers.

The association of HLA and band-shaped kerato­pathy has not been reported earlier. But familial band-shaped keratopathy could have a genetic basis. Our cases had HLA identity at both DR and B loci suggesting that genetic factor may also be important in the aetiology of the corneal lesions besides their secondary association with ichthyosis.


1Wells RS, and Kerr CB. Genetic classification of ichthy­osis. Arch Dermatol. 92:1-6, 1965.
2Wells RS, and Kerr CB. Clinical features of autosomal dominant and sex-linked ichthyosis in an English popula­tion. Br Med J. 1:947-950, 1966.
3Jay B, Black RK,and Wells RS. Ocular manifestations of ichthyosis. Br J Ophthalmol. 52:217-226, 1968.
4Sever RJ, Frost P, and Weinstein G. Eye changes in ich­thyosis. JAMA. 206:2283-2286, 1968.
5Hida T, Akiya S, Kigasawa K, et al. Familial band­shaped spheroidal degeneration of the cornea. Am J Opthalmol. 97:651-652, 1984.
6Kanai A, and Kaufman HE. Electron microscopic studies of primary band-shaped keratopathy and gelatinous drop-like corneal dystrophy in two brothers. Ann Oph­thalmol. 14:535-539, 1982.