Isolated foveal hypoplasia

被引:16
作者
Querques G. [1 ]
Prascina F. [1 ]
Iaculli C. [1 ]
Noci N.D. [1 ]
机构
[1] Department of Ophthalmology, Policlinico Riuniti di Foggia, University of Foggia, Foggia 71100
关键词
Fluorescein angiography; Foveal hypoplasia; Fundus-related perimetry; Oculocutaneous albinism; Optical coherence tomography;
D O I
10.1007/s10792-008-9215-5
中图分类号
学科分类号
摘要
Purpose: To describe a patient with isolated foveal hypoplasia. Methods: A 55-year-old man with the clinical suspicion of foveal hypoplasia was given a complete ophthalmological examination, including optical coherence tomography (OCT), fluorescein angiography (FA) and fundus-related perimetry (FRP). Mutation screening for oculocutaneous albinism and aniridia was also performed, but the results were negative for both. Results: Following a complete ophthalmological examination and genetic studies, we were able to confirm the clinical suspicion of isolated foveal hypoplasia in this otherwise healthy patient. Conclusions: With this report we want to highlight the roles of OCT, FA and FRP in the diagnosis of such a singular condition as isolated foveal hypoplasia. © Springer Science+Business Media B.V. 2008.
引用
收藏
页码:271 / 274
页数:3
相关论文
共 12 条
  • [1] Summers C., King R.A., Ophthalmic features of minimal pigment oculocutaneous albinism, Ophthalmology, 101, pp. 906-914, (1994)
  • [2] Meyer C.H., Lapolice D.J., Freedman S.F., Foveal hypoplasia in oculocutaneous albinism demonstrated by optical coherence tomography, Am J Ophthalmol, 133, pp. 409-410, (2002)
  • [3] Gehring W.J., The master control gene for morphogenesis and evolution of the eye, Genes Cells, 1, pp. 11-15, (1996)
  • [4] Ton C.C.T., Hirvonen H., Miwa H., Weil M.M., Monaghan P., Jordan T., Et al., Positional cloning and characterization of a paired box and homeobox-containing gene from the aniridia region, Cell, 67, pp. 1059-1074, (1991)
  • [5] Oliver M.D., Dotan S.A., Chemke J., Abraham F.A., Isolated foveal hypoplasia, Br J Ophthalmol, 71, pp. 926-930, (1987)
  • [6] Recchia F.M., Carvalho-Recchia C.A., Trese M.T., Optical coherence tomography in the diagnosis of foveal hypoplasia, Arch Ophthalmol, 120, pp. 1587-1588, (2002)
  • [7] McGuire D.E., Weinreb R.N., Goldbaum M.H., Foveal hypoplasia demonstrated in vivo with optical coherence tomography, Am J Ophthalmol, 135, pp. 112-114, (2003)
  • [8] Vedantham V., Isolated foveal hypoplasia detected by optical coherence tomography, Indian J Ophthalmol, 53, pp. 276-277, (2005)
  • [9] Chievitz J.H., Die area and fovea centralis retinae beim menschlichen fetus, Int Monatsschr Anat Physiol, 4, pp. 201-226, (1887)
  • [10] Smelser G.K., Ozanics V., Rayborn M., Sagun D., The fine structure of the retinal transient layer of chievitz, Invest Ophthalmol, 12, pp. 504-512, (1973)