Keratoconus is a non-inflammatory degenerative corneal disease characterised by a localised region of stromal thinning spatially associated with a cone-shaped deformation of the surface. It is most commonly an isolated sporadic condition.¹ Recent reports demonstrate genetic mapping to chromosomes 16q, 21q, and 18p, as well as association of HLA-A26, B40, and DR 9.^2,3 Keratoconus has been reported in clinical contexts with 36 other multisystem disorders.^1,2 We describe the first two cases of keratoconus in association with Woodhouse Sakati syndrome.

Case report

Two sisters (aged 14 years and 18 years) presented with history of bilateral progressive loss of vision over 8 years. Progeny of a first degree consanguineous marriage, they were the only members in the family of six siblings with a diagnosis of Woodhouse Sakati syndrome. Both sisters exhibited variable manifestations of the syndrome including hypogonadism, primary amenorrhoea, hypothyroidism, electrocardiographic abnormalities, and dysmorphic features. The elder sister also had a mild degree of mental retardation. None of their siblings or parents had eye complaints but a maternal aunt’s daughter had bilateral keratoconus.

Ophthalmic evaluation of the elder sister revealed uncorrected visual acuity (UCVA) of 20/200 in both eyes. Her refraction was −19.0 −8.0×120 in the right eye and −9.0 −3.75×165 in the left eye. Spectacles improved only left eye vision slightly to 20/160. Slit lamp biomicroscopy showed bilateral central corneal protrusion and stromal thinning at the apex (fig 1A). Keratometry was 71.00/63.00 @ 68 in the right eye and 53.00/49.50 @ 135 in the left eye. Hard contact lens fitting failed and surgical intervention was not conducted.

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Figure 1

 Features of keratoconus are seen. (A) Slit lamp biomicoscopy of the right cornea in the elder patient, showing advanced cone deformation and deep Descemet’s membrane scarring. (B) Slit lamp biomicoscopy of the left cornea in the younger patient, showing dense central scarring following hydrops attack. (C) Histopathological section of left corneal button illustrating the fragmentation of Bowman’s layer (large arrow) and large break in Descemet’s membrane (small arrows) (periodic acid Schiff stain, ×200).

Ophthalmic evaluation of the younger sister revealed UCVA of 20/40 in the right eye and 20/160 in the left eye, which improved to 20/80 with spectacles. Slit lamp biomicroscopy showed similar findings to her sister (fig 1B). Keratometry was 36.6 D/54.1 D @ 170 in the right eye and 49.2 D/56.6 D @ 48 in the left eye. She developed corneal hydrops in the left eye and contact lens fitting failed. Because of central corneal scarring and progressive deterioration of her left eye vision, she underwent penetrating keratoplasty (fig 1C). Fourteen months postoperatively, UCVA was 20/50, improving to 20/30 with pin hole.

Comment

Woodhouse Sakati syndrome (MIM 241080) is an extremely rare genetically determined autosomal recessive disorder. It was first described in two Saudi Arabian families,⁴ and later reported in a single Turkish family.⁵ Table 1 presents manifestations of the syndrome.^4,5

We report a new association in our two cases. Such concurrence of early keratoconus and the syndrome raises the possibility of a genetic linkage, although a chance association cannot be excluded.

On one hand, either chromosomal rearrangements such as chromosome 7, 11 translocation or genetically determined syndromes such as this syndrome should be considered in cases where keratoconus is present during childhood.⁶ That may explain the early presentation of keratoconus in our cases. An additional factor is that keratoconus tends to be more prevalent and diagnosed at a younger age in Asians than in white people.³

On the other hand, familial keratoconus in our cases cannot be excluded because of the presence of keratoconus in a single relative and parental consanguinity. Positive family history has been reported in 6% to 10% of keratoconus cases and is suggested to be caused by autosomal dominant inheritance with incomplete penetrance.^1,2,3

To the best of our knowledge, this is the first report of bilateral keratoconus in association with Woodhouse Sakati syndrome. Ophthalmologists and endocrinologists should be aware that patients with this syndrome who complain of poor vision should be suspected of having keratoconus once other more common conditions are ruled out.