Year : 1992 | Volume
: 40 | Issue : 1 | Page : 24--26
JS Saini, Ashok Sharma, Premi Pillai, Kanwar Mohan
Department of Ophthalmology Postgraduate Institute of Medical Education and Research Chandigarh, India
J S Saini
Department of Ophthalmology Postgraduate Institute of Medical Education and Research Chandigarh 160 012
A 2-month-old male infant was found to have Norrie«SQ»s disease. The clinical presentation and detailed histological features diagnostic of the disease are discussed. This is the first authentic, histologically proven case of Norrie«SQ»s disease from India. The absence of hearing loss and mental retardation at the time of presentation at the early stage of infancy and the fact that the case was sporadic do not detract from the diagnosis. However the child at the age of one year developed hearing loss.
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Saini J S, Sharma A, Pillai P, Mohan K. Norries disease.Indian J Ophthalmol 1992;40:24-26
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Saini J S, Sharma A, Pillai P, Mohan K. Norries disease. Indian J Ophthalmol [serial online] 1992 [cited 2021 Apr 22 ];40:24-26
Available from: https://www.ijo.in/text.asp?1992/40/1/24/24416
Norrie, a Danish ophthalmologist surveying the causes of blindness in Denmark in 1927, described a particular type of congenital blindness as atrophia oculi congenital. Warburg in 1961 proposed the name Norrie's disease for this condition of congenital bilateral pseudotumour of the retina with recessive X-linked chromosomal transmission . In 1966, she reviewed world literature and described 35 cases occurring in six families sub . She noted the springing up of the mutant gene in many countries in Europe, England, Canada, Cyprus, Cuba and United States . In 1968 Hansen  reported the first sibship from North America and subsequently more case reports came from that country. The disease has been reported from Scotland , Ireland , Israel , Japan  and recently from 'Sri Lanka .
Norrie's disease is rare in all the countries of the world. A total of 286 cases have been reported so far ,. We report the first case from India.
A 2-month-old male infant from Himachal Pradesh, was first seen by us in October, 1985. He was the first child born to a seventeen years old mother. The baby was the product of a normal, full term pregnancy without any antenatal exanthematous fever, drug ingestion, systemic illness or trauma during the first trimester. There was no birth trauma. The baby cried immediately after birth and no oxygen was administered. The mother noticed a white reflex from the eyes at the age of three weeks. According to the mother, the child appeared to have no vision. There was no history of deafness, blindness or mental retardation in the family. The mother's step brothers and sisters were examined and found normal. The baby was otherwise healthy and had no congenital abnormalities [Figure 1]. The child did not respond to any visual stimulus. Examination under general anaesthesia revealed clear corneas, measuring 11
Right Eye: The anterior chamber was very shallow. The iris was flat, hypopigmented with ectropion uvea and pupil fully dilated. The ciliary processes appeared elongated. The lens was clear. A vascularised white mass was seen just behind the lens, extending upto the periphery. The mass obscured the details of the posterior segment. The intraocular tension was 32mm Hg.
Left Eye:- The anterior chamber was almost flat. The pupil was small and bound down to the lens. Posterior synechiae were visible at 3 and 9 0 clock position. The pupil did not dilate with phenylephrine and atropine. The iris was hypoplastic. Behind the clear lens a whitish vascular mass was seen. The intraocular tension was 37mm Hg.
X-ray orbits and skull were normal. Ultrasonograms showed hyperechoeic areas in the posterior segments. Enucleation of the right eye was done. The child was followed up for two years and at the age of one year the child developed defective hearing.
GROSS: The eye bail measured 22 x 21 x 21 mms. The cornea and sclera were normal. The lens was artifactually lost. A hyperchromatic mass behind the iris and extending posteriorly was seen [Figure 2]. Eosinophilic subretinal exudates and haemorrhage were seen.
The histopathological findings were characteristic of Norries disease. Cornea was normal. Iris showed hypopigmentation of stroma, ectropion uvea and rubeosis. Peripheral anterior synechiae were seen. Ciliary processes were elongated. The retina was totally detached and thrown into pronounced folds behind the lens capsule. There was scanty vitreous. All the layers of the retina were totally disorganised. No normal photoreceptors, bipolar cells or nerve fibres were visible [Figure 3] A number of prominent intra-retinal rosettes comprising of photoreceptor type of cells were seen. They were either single layered enclosing a central lumen lined by an external limiting membrane with cell processes in side the lumen or consisting of two layers of cells [Figure 4][Figure 5]. Some areas showed abnormal retinal fibrovascularization, large areas of haemorrhages and eosinophilic subretinal exudates. The retinal pigment epithelium showed hyperplasia [Figure 6]. Choroid and optic nerve were normal.
Norrie's disease is a rare X-linked recessive disorder . In a series of five hundred cases, examined for suspected retinoblastoma, no case of Norrie's disease was encountered although 265 (53%) patients were found not to have retinoblastoma .
The first case report of Norrie's disease from the U S A was published in 1868 . Gene mutation for this disease has now occurred in all races. With this report it is apparent that it has occurred in India too. Norrie's disease must be considered in male infants with bilateral retro-lental masses. All the affected patients of Norrie's disease are blind since birth . Mental subnormality occurs in about one third of cases and 25-30% develop a sensory neural deafness  Retinal dysplasia characterised by severe hypoplasia of the inner retinal layers and hyperplasia of the retinal pigment epithelium as seen in our case has been described as the characteristic histological features of Norrie's disease . Retinal rosettes are seen in all types of retinal dysplasia. The retinal rosettes have been classified by Lahav et al (1973) into four types. Three layered rosettes are the most differentiated with the inner layer surrounding the central lumen. Two layered rosettes represent outer bipolar and inner photoreceptor cells. One layer rosettes may be moderately differentiated or undifferentiated. Our case showed two and one layered differentiated rosettes. Iris atrophy and shallow anterior chamber which are typical of Norrie's disease were also present in our patient. 
The clinical diagnosis of sporadic Norrie's disease is possible. The better understanding of extra-ocular signs of Norrie's disease has helped in establishing the diagnosis of the disease, even in the absence of family history sub. subWarburg (1975)  suggested that degenerative changes in the cerebrum and in the acoustic nerves are responsible for mental retardation and neurosensory loss. Warburg (1975)  reported two cases of sporadic Norrie's disease. Blindness from birth in a male infant, ocular changes of bilateral pseudoglioma, characteristic histopathological features and associated deafness, justify the diagnosis of Norrie's disease in our patient.
Retinoblastoma, recessively inherited retinal dysplasia, familial exudative retinopathy, retinopathy of prematurity, toxoplasmosis, Coat's disease, retinal hamartomas and persistent hyperplastic primary vitreous should be considered in the differential diagnosis of Norrie's disease . Early lensectorny, vitrectomy and retinal repair has been advocated before total retinal detachment and contraction occurs . Phthisis bulbi usually occurs inspite of early treatment . We had only recourse to genetic counselling as the disease was too advanced for any surgical intervention in the other eye.
We are grateful to the staff of the Armed Forces Institute of Pathology. Washington D C for histopathological examination of the right eye.
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