A 13-year-old male is referred for ophthalmological assessment for poor vision. Phenotypically he was a short child with a height of 133 cm, brachymorphy and brachydactyly in all four limbs.
The patient had a corrected refractive error of -13.00 -6.50 to 1° in the right eye and -16.00-6.25 to 179° in the left eye. With this correction he achieved a visual acuity of 0.4 and 0.2 respectively. There was no monocular diplopia or findings of extrinsic and intrinsic ocular motility.
The horizontal corneal diameter was 12.0 mm in both eyes and the pachymetry was 613 and 611 microns respectively. The anterior chamber was narrow, with bilateral iridophacodonesis. There was evidence of microspherophakia with anterior displacement of both crystalline lenses into the posterior chamber.
Intraocular pressure was 20 mmHg bilaterally. Gonioscopy showed a symmetrical narrow angle in both eyes grade II according to Schaffer.
The Orbscan-II topography scan (corneal topographer, Baush and Lomb, U.S.A.) and fundus examination showed no abnormalities.
To prevent angular closure, Nd:YAG laser iridotomy was performed in both eyes at 10 and 2 hours respectively. Given the stability of vision and the absence of diplopia, a conservative approach was adopted in accordance with the wishes of the patient's family by monitoring visual acuity, intraocular pressure, photographic documentation and visual fields to detect the appearance of glaucomatous damage.
On reviewing his family history, the patient was identified as the youngest in a family of eight siblings, in which - in addition to the aforementioned - one brother and two sisters had spherophakia, brachymorphy and brachydactyly. The parents were healthy and none of the children have had offspring.