The authors describe a rare case of full-thickness macular hole formation in a 10-year-old boy with X-linked juvenile retinoschisis.
Macular Hole Secondary to X-Linked Juvenile Retinoschisis
From Pedro Ernesto University Hospital (OFMB, ALG, MB, RMJ), Rio de Janeiro State University, Rio de Janeiro; and Vision Institute (OFMB), Federal University of São Paulo, São Paulo, Brazil.
The authors have no financial or proprietary interest in the materials presented herein.
Address correspondence to Oswaldo Ferreira Moura Brasil, MD, Praia de Botafogo 206, Rio de Janeiro, RJ, CEP: 22250-040 Brazil. E-mail: firstname.lastname@example.org
Received: October 27, 2008
Accepted: December 02, 2010
Posted Online: February 01, 2011
X-linked juvenile retinoschisis is a rare disease that develops in early life in young males. Both eyes are always involved, although the progression in each eye may be different.
We describe a rare case of full-thickness macular hole secondary to X-linked juvenile retinoschisis.
A 10-year-old boy was referred for ophthalmic evaluation because his parents thought he watched television too closely. He had no history of ocular symptoms or trauma. His best-corrected visual acuity was 20/100 in the right eye and 20/200 in the left eye. Anterior segment examination was unremarkable. Fundus examination revealed the typical X-linked juvenile retinoschisis stellate maculopathy in the right eye and a full-thickness macular hole in the left eye (Figs. A and B). Fluorescein angiography did not demonstrate leakage in the right eye (Fig. C), thus differentiating from cystoid macular edema. The angiogram of the left eye showed hyperfluorescence in the area of the retinal defect (Fig. D). Optical coherence tomography disclosed foveal schitic cavities in both eyes and a full-thickness macular hole in the left eye (Figs. E and F). Electroretinogram showed selective reduction of b-wave amplitude, as well as reduction of the oscillatory potentials and delay of the implicit times.
Figure. Imaging of the Right Eye Shows the Typical Stellate Maculopathy (A) Without Leakage During Fluorescein Angiography, Thus Differentiating from Cystoid Macular Edema (C), and Foveal Schitic Cavities on Optical Coherence Tomography (E). Imaging of the Left Eye Shows a Full-Thickness Macular Hole (B), with Hyperfluorescence in the Area of the Retinal Defect During Fluorescein Angiography (D), and Unequivocal Diagnosis Is Obtained with Optical Coherence Tomography that also Reveals Schitic Cavities Surrounding the Hole (F).
Low vision aids were offered and inheritance was explained to the parents. The clinical examination results remain stable after 1 year of follow-up.
Full-thickness macular hole formation secondary to X-linked juvenile retinoschisis is a rare clinical entity. To our knowledge, only two cases have been previously described.1,2 The first report described a case where anteroposterior vitreomacular traction was associated with macular hole formation and secondary retinal detachment.1 The second report2 was similar to ours, thus increasing the evidence that an association between X-linked juvenile retinoschisis and full-thickness macular hole formation may exist.
The mechanism underlying macular hole formation in an eye with schitic cavities is unknown. Vitreomacular traction or ocular trauma may be possible causes of rupture of the schitic cavities in the fovea. Macular hole formation has also been described in myopic foveoschisis, a disease anatomically similar to X-linked retinoschisis, where foveal cystic spaces also form without leakage on fluorescein angiography.3 Although traction is still a contributor for the hole formation in myopic foveoschisis, a progressive thinning and unroofing of foveal tissue may also lead to full-thickness macular holes, perhaps similar to patients with X-linked juvenile retinoschisis. In our case, there was no evidence of traction or history of trauma. We believe that degenerative changes in the widely schitic neurosensory retina could have led to the macular hole formation.
Some authors have described reattachment of the retinoschisis with visual improvement following vitrectomy in eyes with X-linked juvenile retinoschisis.4 The rationale for surgical success would be the induced posterior vitreous detachment. Macular hole surgery would induce posterior vitreous detachment and could be an option to treat this case.
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