|Year : 1976 | Volume
| Issue : 1 | Page : 39-40
M Mathew1, S Agarwal2
1 Lady Hardinge Medical College & Hospital, New Delhi, India
2 Dept. of surgery, Lady Hardinge Medical College & Hospital, New Delhi, India
Ophthalmology, Lady Hardinge Medical College & Hospital, New Delhi
Source of Support: None, Conflict of Interest: None
|How to cite this article:|
Mathew M, Agarwal S. Complicated microphthalmos. Indian J Ophthalmol 1976;24:39-40
Retardation of growth of the eyeball after the primary optic vesicle has budded out results in microphthalmos. Colobomatous microphthalmos is the condition in which there is small underdeveloped eyeball with failure in the closure of the embryonic cleft. Complicated microphthalmos means a colobomatous disorder associated with other malformations. General malformations include oligophrenia, polydactyly, syndactyly, arachnodactyly, malformations of face and cranium. Malformations of heart, diaphragm, viscera, and cryptorchidism, complete or incomplete Bardetbiedl syndrome, epilepsy, deafness and dumbness can all be associated. 
A combination of deformities-skeletal, dental, cardio-vascular, and urogenital resembling the aplastic anaemia of Fanconi is a vary rare anomaly. Neurological affections associated with microphthalmos are Lindau's disease and orbital meningoencephalocele. Von Hippel observed cysts of lower lid with microphthalmos in four individuals. Associated with this there was cystic kidneys in three, cystic liver in three, cystic pancreas in two, cleft palate in two, club foot in one, poly-dactyli and syndactyly in three, atresia of urethra in one; absence of olfactory nerve in two and in one case there was arhinencephaly.
The typical coloboma and microphthalmia are inherited and are therefore germinal in origin. Complicated microphthalmia can be passed on in three ways: (a) as a dominant; (b) as a sex linked recessive; (c) as a simple recessive. Sex linked recessive, mainly occur where microphthalmia is part of a larger syndrome.
The etiology of this rare and variegated combination of complicated microphthalmia is difficult to evaluate. Number of genetic factors may be responsible for the variegated lesions. It is found out that microphthalmia may be associated with anomalies in the 13-15 groups of chromosomes. Environmental factors may also play a part as seen in experimental teratogenesis. In man, malnutrition, infection of mother, rhesus incompatibility, X-ray radiation all can play a part. As many cases of microphthalmia with urogenital lesions are not reported we thought it worthwhile to report this case.
| Case Report|| |
P, a 7 year old female was admitted to Lady Hardinge Hospital for dribbling of urine during day time, a complaint since birth. Child was a full term normal delivery with no history of consanguinity, infection in the mother during pregnancy, or history of taking any drug during that period. On general examination the child was short statured for her age.
Examination of the eye showed that the right eye was normal with a vision of 6/6 and J 1. Left eye had vision of counting fingers at 1 metre only. Left eye was small in size with microcornea, coloboma of iris, Fundus examination of left eye showed coloboma of retina and choroid, involving the optic disc. Slit lamp examination showed pigmentation of the cornea from 5 to 7 o'clock position on the epithelial surface. Iris showed coloboma at 6'o clock position with filamentary connections.
Systemic examination was normal except for the genito-urinary system. Urine passed normally from the urethra, but she also dribbled from an orifice just to the right of urethral opening. 1VP was done and the dye excreted promptly on the left side. No excretion was seen on the right side. Calyces and pelvis of the right kidney was not well visualized. The right ureter appeared to enter the bladder at a lower level (ectopic ureter). Normal filling of the bladder was present.
Cystoscopy showed that there was an abnormal opening to the right of the normal urethra through which urine was dribbling. 5 cc of indigo carmine was given. No dye was seen coming out through the abnormal opening while urine in the bladder was heavily coloured. Good concentrated dye was seen coming out through left ureter but no other ureteric orifice was visualized.
Catheterization of abnormal ureter was attempted. Catheter was passed up for 3 cm through which 8 cc of radio opaque dye was injected. X-ray taken showed marked hydro-ureter with hydronephrosis on right side with kinking of ureter (Photograph I).
All other investigations were normal. Right nephrectomy was done. Kidney was small in size lobulated and hypoplastic. Ureter was dilated and tortuous. Histopathology revealed hypoplastic kidney, with chronicpylenephritis and chronic-ureteritis.
| Discussion|| |
The parents and siblings being normal, the condition should be considered as one of simple recessive type. There is no knowledge that the grand parents had any such lesion.
A case of microphthalmia with coloboma of iris, retina, choroid and optic disc, is presented. Urogenital lesions include ectopic ureter with right hydro-ureter and hypoplastic kidney,
| References|| |
Duke-Elder S.. 1964. System of Ophthalmology,
Vol. III, Part 11, 490. Henry Kimpton, London.
Fanconi, J.B., Kinderkellk 117, 257 1927, quoted in Duke-Elder, System of Ophthalmology, Vol.
111, Part II, 194, 1964.
Idamann, 1937 Developmental abnormalities of the eye, Cambridge University Press, London pp 86.
Von Hippel, 1934. E. Arch & Ophthal.
Walsh, F.B., 1957. Clinical Neuro-Ophthalmology,
The Williams & Wilkins Co., po. 338.
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