|Year : 1982 | Volume
| Issue : 2 | Page : 109-110
Anterior megalophthalmos associated with lamellar cataract on alkaptonuria
V Anand Rao
Kasturba Medical College, Manipal, India
V Anand Rao
Kasturba Medical College, Manipal
Source of Support: None, Conflict of Interest: None
|How to cite this article:|
Rao V A. Anterior megalophthalmos associated with lamellar cataract on alkaptonuria. Indian J Ophthalmol 1982;30:109-10
|How to cite this URL:|
Rao V A. Anterior megalophthalmos associated with lamellar cataract on alkaptonuria. Indian J Ophthalmol [serial online] 1982 [cited 2019 Apr 25];30:109-10. Available from: http://www.ijo.in/text.asp?1982/30/2/109/28090
Anterior megalophthalmos is the term suggested by Vail to define the bilateral developmental anomaly wherein in the absence of a raised intraocular pressure, the anterior segment of the eye is larger than normal. The most prominent feature is an enlarged circumference of the cornea, hence the usual name megalocornea (Keratomegalia).
Associated congenital anomalies are not commonly found in cases of anterior megalophthalmos. The most common association, however, is Marfan's arachnodactyly.
The purpose of the present communication is to report a rare case of anterior megalophthalmos associated with lamellar cataract and alkaptonuria.
| Case report|| |
A 5 year old female patient was brought to O.E.U. Institute of Ophthalmology Manipal by her father with complaint of diminished vision both eyes of one year duration.
The child was a full term baby and delivery was normal. Mile stones were delayed. The father also gave history that child passed `black urine' since birth. There was history of consanguinity in parents.
General examination revealed a mentally retarded moderately built and nourished child with a high arched palate.
Local examination of both eyes showed large corneas [Figure - 1] with a horizontal diameter of 16 mm and vertical diameter of 15 mm. The cornea was clear. Keratometer readings were 48.50 D and 51.00 D in the horizontal and vertical axis respectively. AC was deep and there was iridodonesis; There was a central lenticular opacity 6 mm in size [Figure - 1]. Intraocular pressure was 14.6 mm Hg sch and 17.3 mint Hg sch in RE and LE respectively. Fundi were normal. Visual acuity could not be assessed due to the mental retardation and genioscopy with the Goldmann lens could not be done due to the age of the child. Slit lamp examination showed lamellar type of congenital cataract in both eyes.
Father, mother, elder brother and younger sister were examined and found to be normal.
The urine was dark yellow and turned black on standing. Specific gravity was 1.008. There was a trace of albumin. Sugar was absent. Ferric chloride test confirmed the presence of homogentisic acid.
Father's, mother's, elder brother and younger sister's urine did not show presence of homogentisic acid.
| Discussion|| |
In the present case the child was a female and there was consanguinity of the parents. Dohlman and Larsson also noted consanguinity of parents when females were affected.
The association of alkaptonuria with megalocornea and lamellar cataract in this case appears to be incidental rather than casual. Lichtenstein and Kaplan found that at about middle age a high proportion of alkaptonuric individuals develops blackish discolouration of cartilage, sclera and occasionally of skin. The present case, a 5 year old child, had no blackish discolouration of these tissues. The association of megalocornea with lamellar cataract may be due to the common origin of cornea (partly) and lens from the surface ectoderm. The corneal curvature was increased as shown by the keratometer readings and there was astigmatism with the rule of 2.50 D.
The occurrence of megalocornea and congenital glaucoma in the same family has been noted by several observers while in the same person congenital glaucoma may exist in one eye and anterior megalophthalmos in the other. In our case it, both eyes there was megalocornea but tension was normal and there was no glaucomatous cupping.
| Summary|| |
A rare case of anterior megalophthalmos with lamellar cataract and alkaptonuria is described.
| References|| |
Vail, D. 1931 Arch. Ophthalmol 6 :39.
Duke Elder, S.S. 1964, System of Ophthalmology, Vol. III Part 2, p. 498-502, Henry Kimpton London.
Dohlmann, C.H. and Larson, T., 1958, Acta Ophthalmol. (Kbh) 36 : 845
Lichtenstein, L. and Kaplan, L. 1954, Amer. J. Path. 30 : 99.
Maibran, E. and Dodds, R., 1960, Amer. J. Ophthaln, ol. 49 :908.
Francois, J. and Neetens, A, 1955, Acta. Genet. Med. (Roma) 4 : 217.
[Figure - 1]