OJOph  Vol.5 No.3 , August 2015
Diagnostics and Prediction of Glaucoma in Patients with Familial Congenital Iris Hypoplasia
ABSTRACT
Purpose: To identify the clinical features of the syndrome Frank-Kamenetsky and determine the criteria of early formation of glaucoma. Materials and Methods: We observed 52 patients. Follow up period was from 5 to 22 years. The first group (juvenile) consisted of males who had the first signs of glaucoma diagnosed before the age of 12 (n = 22). The average age of the group was 10.1 ± 2.4 years. The control group included healthy males (n = 30) in the same age range (average age 7.2 ± 1.6 years). The second group (adults) consisted of patients who had the first signs of glaucoma diagnosed after the age of 18 and elder. The average age of the group was 32.44 ± 6.28 years. The control group had males (n = 30) in the same age range (average age 26.59 ± 4.12 years). The inclusion criterion was: the presence of congenital bilateral mesodermal iris leaf hypoplasia, tra-becular dysgenesis signs, the presence of blood relatives on the maternal line (grandfather, uncle) male with similar changes iridociliary zone and glaucoma. Criteria of glaucoma formation were: increased IOP more than 21 mmHg with accompanying it expansion of the cup/disc ratio, reducing the thickness of the nerve fiber layer (RNFL) according to OCT. Results: It was found that Frank-Kamenetsky Syndrome had an X-linked with sex, recessive inheritance and was characterized by bilateral congenital irisdysgenesis and goniodysgenesis with the accession glaucoma. Predictors of glaucoma formation in early childhood are a combination of: 1) congenital subtotal atrophy of iris mesodermal layer (from 0 to 30 mkm) with signs of progressive dystrophy; 2) nonprogressive congenital megalocornea (cornea diameter 12 - 14 mm); 3) iridotrabecular dysgenesis of II-III degree; 4) hyperopic refraction in axial myopia.

Cite this paper
Iureva, T. , Shchuko, A. and Pyatova, Y. (2015) Diagnostics and Prediction of Glaucoma in Patients with Familial Congenital Iris Hypoplasia. Open Journal of Ophthalmology, 5, 115-123. doi: 10.4236/ojoph.2015.53018.
References
[1]   Becker, B. and Shaffer, R. (2004) Diagnosis and Therapy of the Glaucomas. Mosby, St. Louis.

[2]   Frank-Kamenetskiy, Z.G. (1951) To the Question of Congenital Histoplasia of the Iris with Secondary Glaucoma. Proceedings of the Irkutsk Medical Institute, Dedicated to the 30th Anniversary of Its Existence, IGMI, Irkutsk, 281-288.

[3]   Frank-Kamenetskiy, Z.G (1925) The Peculiar Form of Hereditary Glaucoma. Russian Ophthalmological Journal, No. 3, 203-219.

[4]   Brémond-Gignac, D. (2007) Glaucoma in Aniridia. Journal Français d’Ophtalmologie, 2, 196-199.
http://dx.doi.org/10.1016/S0181-5512(07)89576-3

[5]   Iureva, T.N. (2012) Mechanisms of Formation of Glaucoma Associated with Alteration of the Iris. Ph.D. Dissertation, Siberian Branch of the Russian Academy of Medical Sciences, Irkutsk.

[6]   Levin, A.V. (2003) Congenital Eye Anomalies. Pediatric Clinics of North America, 1, 55-76.
http://dx.doi.org/10.1016/S0031-3955(02)00113-X

[7]   Apple, D.J. and Naumann, G.O.H. (1997) General Anatomy and Development of the Eye. Pathology of the Eye, 1-19.

[8]   Radhakrishan, S., Rollins, A. and Roth, J. (2001) Real-Time Optical Coherence Tomography of the Anterior Segment at 1310 nm. Archives of Ophthalmology, 119, 1179-1185.
http://dx.doi.org/10.1001/archopht.119.8.1179

[9]   Shchuko, A.G. and Iureva, T.N. (2009) Glaucoma and Pathology of the Iris. Borges, Moscow.

[10]   Smelser, G.K. and Duke-Elder, S. (1990) Morphological and Functional Development of the Cornea. Symposium Abstract Book: The Transparency of the Cornea, Springfield, 23-39.

[11]   Clemente, C.D. (2007) Anatomy: A Regional Atlas of the Human Body. Lippincott Williams & Wilkins, Philadelphia.

[12]   MacDonald, I.M., Tran, M. and Musarella, M.A. (2004) Ocular Genetics: Current Understanding. Survey of Ophthalmology, 2, 159-196.
http://dx.doi.org/10.1016/j.survophthal.2003.12.003

[13]   Deepak, P.E. and Kaufman, L.M. (2003) Anatomy, Development, and Physiology of the Visual System. Pediatric Clinics of North America, 1, 1-23.

[14]   Idrees, F., Vaideanu, D. and Fraser, S.G. (2006) A Review of Anterior Segment Dysgeneses. Survey of Ophthalmology, 3, 213-231.
http://dx.doi.org/10.1016/j.survophthal.2006.02.006

[15]   Rodrigues, M.M., Jester, J.V. and Richards, R. (1985) Essential Iris Atrophy. A Clinical, Immunohistologic, and Electron Microscopic Study in an Enucleated Eye. Ophthalmology, 95, 69-73.
http://dx.doi.org/10.1016/S0161-6420(88)33234-3

 
 
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