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    GAPO syndrome: Four new patients with congenital glaucoma and myelinated retinal nerve fiber layer
    (WILEY, 2013) Bozkurt, Banu; Yildirim, Mahmut Selman; Okka, Mehmet; Bitirgen, Gulfidan
    This article reports on the ophthalmological features of four Turkish children with GAPO syndrome, a very rare autosomal recessive condition characterized by growth retardation (G), alopecia (A), pseudoanodontia (P) (failure of tooth eruption), and optic atrophy (O). The children were from two unrelated families born to consanguineous parents. They had the characteristic facial appearance of alopecia, rarefaction of eyebrows and eyelashes, frontal bossing, high forehead, midfacial hypoplasia, hypertelorism, and thickened eyelids and lips. Two children had severe end-stage glaucoma in both eyes and unilateral corneal opacity, whereas other two children had myelinated retinal nerve fiber layer; one with bilateral optic atrophy and the other one with persistent pupillary membrane in the left eye. (c) 2013 Wiley Periodicals, Inc.
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    In vivo corneal confocal microscopic analysis " in patients with keratoconus
    (IJO PRESS, 2015) Bitirgen, Gulfidan; Ozkagnici, Ahmet; Bozkurt, Banu; Malik, Rayaz A.
    AIM: To quantify corneal ultrastructure using laser scanning in vivo confocal microscopy (IVCM) in patients with keratoconus and control subjects. METHODS: Unscarred corneas of 78 keratoconic subjects without a history of contact lens use and 36 age-matched control subjects were evaluated with slit-lamp examination (SLE), corneal topography and laser scanning IVCM. One eye was randomly chosen for analysis. Anterior and posterior stromal keratocyte, endothelial cell and basal epithelial cell densities and sub-basal nerve structure were evaluated. RESULTS: IVCM qualitatively demonstrated enlarged basal epithelial cells, structural changes in sub -basal and stromal nerve fibers, abnormal stromal keratocytes and keratocyte nuclei, and pleomorphism and enlargement of endothelial cells. Compared with control subjects, significant reductions in basal epithelial cell density (5817 +/- 306 cells/mm(2) vs 4802 +/- 508 cells/mm(2), P<0.001), anterior stromal keratocyte density (800 +/- 111 cells/mm(2) vs 555 +/- 115 cells/mm(2), P<0.001), posterior stromal keratocyte density (333 +/- 34 cells/mm(2) vs 270 +/- 47 cells/mm(2), P<0.001), endothelial cell density (2875 +/- 223 cells/mm(2) vs 2686 +/- 265 cells/mm(2), P<0.001), sub-basal nerve fiber density (31.2 +/- 8.4 nerves/mm(2) vs 18.1 +/- 19.2 nerves/mm(2), P<0.001), sub -basal nerve fiber length (21.4 +/- 3.4 mm/mm(2) vs16.1 +/- 5.1 mm/mm(2), P<0.001), and sub-basal nerve branch density (median 50.0 (first quartile 31.2 - third quartile 68.7) nerve branches/mm(2) vs median 25.0 (first quartile 6.2 - third quartile 45.3) nerve branches/mm(2), P<0.001) were observed in patients with keratocon us. CONCLUSION: Significant microstructural abnormalities were identified in all corneal layers in the eyes of subjects with keratoconus using IVCM. This non invasive in vivo technique provides an important means to define and follow progress of microstructural changes in patients with keratoconus.