PMC5015606_01
Biometric data and mean refractive error in the twin brothers compared to emmetropic subjects (Delmarcelle et al. 1976 [24]), patients with isolated simple microphthalmos (Weiss et al. 1989 [9), and patients with posterior microphthalmos (Khairallah et al. 2002 [16]).
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T1
External examination of the eyes was normal, including corneal size (11 mm diameter OU) and palpebral fissure (Figure 1 (Fig. 1)). External examination of the eyes was normal, including corneal size (diameter 11 mm OU) and palpebral fissures (Figure 1 (Fig. 1)).
Index patient in 2011, at age 48, and his twin brother who looks almost exactly alike. Note normal palpebral fissures, normal size of the cornea and no deep set globes.
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F1
Biomicroscopic examination showed in both eyes a mildly reduced anterior chamber depth and a maculopathy (Figure 2 (Fig. 2)).
Index patient in 1994, at age 31. Colour photograph of the RE (A) and LE (B) showing a bilateral maculopathy with serous macular detachment.
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F2
Fluorescein angiography confirmed the presumed diagnosis of CSC OU with macular serous detachment, diffuse pigment epitheliopathy, and mild focal subretinal leakage (Figure 3 (Fig. 3)).
Index patient in 1994, at age 31. Fluorescein angiography of the RE, early phase (A) and late phase (B), and of the LE early phase (C) and late phase (D) show macular RPE window defects OU and mild subretinal focal leakage.
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F3
RE in 1995, 1996, 1997 and 1998, but despite this treatment the macular detachment increased slowly and cystic retinal degeneration and fibrosis became evident, as well in the RE as in the LE (Figure 4 (Fig. 4)). Repeated FA revealed progressively expanding subretinal lesions in the posterior pole of both eyes, with leakage, staining and pooling of fluid (Figure 5 (Fig. 5)).
Index patient in 2004, at age 41. Note in the RE (A) and in the LE (B) pronounced serous elevation of the macula, cystic degeneration of the retina and fibrotic changes.
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F4
RE in 1995, 1996, 1997 and 1998, but despite this treatment the macular detachment increased slowly and cystic retinal degeneration and fibrosis became evident, as well in the RE as in the LE (Figure 4 (Fig. 4)). Repeated FA revealed progressively expanding subretinal lesions in the posterior pole of both eyes, with leakage, staining and pooling of fluid (Figure 5 (Fig. 5)).
Index patient in 2004, at age 41. Fluorescein angiography AV filling phase of the RE (A) and LE (B) and late phase in the RE (C) and LE (D) show large lesions with RPE window defects, leakage staining and pooling of dye.
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F5
OCT was available in 1997, and repeated scans showed pronounced and progressive cystic degeneration of the macula OU (Figure 6 (Fig. 6)).
Index patient, LE. OCT Stratus in 1999, at age 36 (A) and OCT Stratus in 2007, at age 44, show progressive and pronounced cystic degeneration of the macula.
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F6
EDI OCT, available in 2011, demonstrated dilated choroidal vessels and a thick choroid (Figure 7 (Fig. 7)). Recently, atrophic changes became evident (Figure 9 (Fig. 9)) and on OCT decreased retinal thickness was observed (Figure 7 (Fig. 7)).
Index patient, OCT Spectralis EDI in 2011, at age 48. Note dilated choroidal vessels and a thick choroid, and cystic degeneration of the retina, with reduced thickness of the retina compared to previous recordings.
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F7
ICGA also showed dilated choroidal vessels (Figure 8 (Fig. 8)).
Index patient, ICGA in 2004, at age 41. Note dilated choroidal vessels in the left eye.
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F8
Recently, atrophic changes became evident (Figure 9 (Fig. 9)) and on OCT decreased retinal thickness was observed (Figure 7 (Fig. 7)).
Index patient in 2011, at age 48. Widespread atrophic and degenerative changes are noted in the posterior pole of the RE (A) and left eye (B).
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F9
Autofluorescence imaging showed large areas of hypoautofluorescence compatible with afunctional retinal pigment epithelium and retina (Figure 10 (Fig. 10)).
Index patient in 2011, at age 48. Autofluorescence imaging of the LE shows large areas of hypoautofluorescence compatible with atrophy and afunctional retinal pigment epithelium and retina.
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F10
Autofluorescence imaging (Figure 11 (Fig. 11)), fluorescein angiography (Figure 12 (Fig. 12)) and indocyanine green angiography (Figure 13 (Fig. 13)),
Twin brother in 2010, at age 47. Autofluorescence imaging of the LE shows similar, but less pronounced than in the index patient, large areas of hypoautofluorescence compatible with atrophy and afunctional retinal pigment epithelium and retina.
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F11
Autofluorescence imaging (Figure 11 (Fig. 11)), fluorescein angiography (Figure 12 (Fig. 12)) and indocyanine green angiography (Figure 13 (Fig. 13)),
Twin brother in 2010, at age 47. HRA fluorescein angiography of the RE and LE in AV phase and at 10 minutes (A-D) and OIS composite image at 16 minutes show bilateral cystic elevation of the macula, RPE window defects, leakage and late pooling, similar to the FA changes in the index patient.
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F12
Autofluorescence imaging (Figure 11 (Fig. 11)), fluorescein angiography (Figure 12 (Fig. 12)) and indocyanine green angiography (Figure 13 (Fig. 13)),
Twin brother in 2010, at age 47. ICGA in 2010, at age 46. Note dilated choroidal vessels in the left eye similar to the changes in the index patient.
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F13
OCT and EDI-OCT (Figure 14 (Fig. 14)), and ultrasound biometry (Table 1 (Tab. 1)) were performed and showed similar ocular anomalies and a maculopathy that was slightly milder than his brother's. Over the next year the maculopathy got slightly worse (Figure 15 (Fig. 15)).
Twin brother in 2010, at age 47. OCT Spectralis EDI of the LE shows dilated choroidal vessels and a thick choroid and cystic degeneration of the retina.
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F14
OCT and EDI-OCT (Figure 14 (Fig. 14)), and ultrasound biometry (Table 1 (Tab. 1)) were performed and showed similar ocular anomalies and a maculopathy that was slightly milder than his brother's. Over the next year the maculopathy got slightly worse (Figure 15 (Fig. 15)).