Adult case of bilateral macular holes in a

Adult onset
foveo-macular vitelliform dystrophy

The adult variant of Best disease,
i.e adult onset foveo-macular vitelliform dystrophy presents in the sixth
decade. Similar to Best disease, subretinal accumulation of lipofuschin
contributes to progressive foveal thinning, RPE atrophy and finally MH
formation.(30–32) Studies on surgical results in these
eyes are limited, with one study reporting hole closure with prolonged silicone
oil tamponade after recurrence with standard vitrectomy procedure.(31) The functional outcome was excellent
in this case with final BCVA of 20/40. This may be due to shorter duration of
disease as compared to Best disease.

Gyrate atrophy

Sharma et al reported a case of
bilateral macular holes in a 28 year old patient with gyrate atrophy of the
choroid and retina.(33) It is an autosomal recessive disease
caused by mutation in ornithine aminotransferase gene. It is associated with
axial myopia, cataract and chorioretinal atrophic patches with scalloped
margins. The proposed mechanism was acceleration of PVD due to axial myopia and
resulting anterior-posterior traction may have caused abrupt dehiscence of the
fovea.(33) Similar to RP where peripheral field
is already constricted, foveal involvement jeopardises the remaining field.

X- linked

X-linked retinoschisis is an
important cause of macular degeneration in young males with characteristic
foveal schisis in stellate or cart-wheel pattern and peripheral retinoschisis.(34–37) Muller cell cone plays a key role
and is the site of foveal splitting and cyst formation.(34) The defective protein retinoschisin
accumulates within the Muller cells in the form of cystic spaces which coalesce
to form large cysts. The inner layer degenerates with or without additional
tangential traction leading to MH formation. Vitreoretinal traction has been
considered to play an additional role by a single author where RD coexisted and
VMT was documented clearly on OCT.(36) MH occurs in these eyes within
second to third decade. Schisis, bulbous ends and cuff of fluid are the
predominant features on OCT. Visual acuity is usually better than 20/200 unless
RD is present. Vision loss worsens in adulthood when underlying RPE and outer
retina undergoes degeneration. Study on surgical outcomes are lacking for XLR
related MH.

Bietti crystalline
corneo-retinal dystrophy

Bietti crystalline dystrophy (BCD) is
an autosomal recessive retinal and choroidal dystrophy characterized by
yellow-white crystalline deposits in the retina, pigment clumping as in RP, RPE
and choriocapillaris degeneration, and choroidal sclerosis, with or without
corneal crystals. CME and MH have been reported infrequently in these eyes with
similar mechanism as in RP.(38–40) Nourinia et al successfully managed
such a case in a 42 year adult with routine MH surgery with improvement in BCVA
from FCCF to 20/50. 


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