Isolated microspherophakia with retinitis pigmentosa

A 42-year-old female presented with the chief complaint of sudden painful decrease in vision of the left eye since 3 days. Her best corrected visual acuity (BCVA) was finger counting right eye and hand movements close to face in the left eye and IOP of 14 and 30 mmHg, respectively. Slit lamp examination revealed bilateral microspherophakia with presence of an anteriorly dislocated cataractous lens in the left eye [Fig. 1a and b]. There was no history of any other systemic illness. Similar history was present in both her sisters. Dilated fundus examination of both eyes revealed mild disc pallor with arteriolar attenuation and bony spicules suggestive of RP [Fig. 1c]. Flat ERG confirmed the diagnosis. On general physical examination, there were no features suggestive of any systemic association known with microspherophakia. Anterior segment optical coherence tomography image of left eye showed corneolenticular touch [Fig. 1d]. On Scheimpflug imaging, anterior chamber depth was 1.10 mm and lens thickness was 5.10 mm in the RE. In the left eye, lens thickness was 5.24 mm with corneolenticular touch and localized corneal edema. In view of anterior dislocation of cataractous crystalline lens, intracapsular cataract extraction was performed in the left eye without intraocular lens implantation. Postoperative period was uneventful with resolution of corneal edema in left eye [Fig. 1e] and IOP was 14 mmHg without drugs. Postoperative BCVA at 6 weeks in left eye was 5/200 with refractive correction of +14.0 DS. She was advised surgery in right eye and low vision aids for final visual rehabilitation.

Figure 1: (a) Microspherophakia with anteriorly dislocated cataractous lens. (b) Equator of the entire lens visible through a dilated pupil in retroillumination. (c) Fundus photograph showing mild disc pallor with arteriolar attenuation and bony spicules, suggestive of retinitis pigmentosa. (d) Anterior segment optical coherence tomography showing corneo-lenticular touch. (e) Postoperative Anterior segment photograph showing clear cornea and aphakia

Discussion

Micropherophakia is a rare developmental condition in which crystalline lenses are smaller and more spherical than normal.[¹] The hallmark of this condition is visibility of the equator of the lens on mydriasis. This condition may be isolated, familial, or may be associated with systemic disorders such as Marfan syndrome, Weill--Marchesani syndrome, homocystinuria, mandibulofacial dysostosis, Alport syndrome, and Klinefelter syndrome.[²³] RP is a hereditary disorder, characterized by rod and cone photoreceptor degeneration and progressive loss of peripheral and central vision. It has been associated with many syndromes such as Usher syndrome, Bardet--Biedl syndrome, Bassen--Kornzweig syndrome, and Refsum's disease.[⁴] In literature, association of Weill--Marchesani syndrome with RP[⁵] have been documented but association of isolated microspherophakia with RP has never been documented (MEDLINE database was searched using keywords “microspherophakia,”, “RP,” and “Weill--Marchesani syndrome”). We report for the first time a case of isolated microspherophakia with RP.

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Conflicts of interest

There are no conflicts of interest.