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Primary Vitreoretinal Dysplasia Transmitted As an Autosomal Recessive Disorder

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Primary Vitreoretinal Dysplasia Transmitted As an Autosomal Recessive Disorder Br J Ophthalmol: first published as 10.1136/bjo.65.9.631 on 1 September 1981. Downloaded from British Journal ofOphthalmology, 1981, 65, 631-635 Primary vitreoretinal dysplasia transmitted as an autosomal recessive disorder NORIO OHBA, SHINOBU WATANABE, AND SHINGO FUJITA From the Department of Ophthalmology, Kagoshima University Faculty of Medicine, Kagoshima, Japan 890 SUMMARY A sibship of a brother and sister with congenital bilateral pseudoglioma is described. The most prominent abnormality was a greyish-white vascularised mass in the retrolental spaces, which was noted as early as the first weeks of life. Corneal opacities, posterior synechiae, and complicated cataracts developed within 1 to 2 years age. The sibship showed normal chromosomes and had no systemic disorders, including mental and hearing impairment. The parents and other relatives were normal. Autosomal recessive disease, rather than Norrie's disease, was the most probable explanation for the dysplasia of the vitreous and retina in the sibship. This is probably the third report of familial occurrence with autosomal recessively inherited vitreoretinal dysplasia without systemic anomalies. The importance of the disease in genetic counselling is discussed. copyright. Vitreoretinal dysplasia is induced by an arrest in the Case reports development of the vitreous and retina, and it typically presents as a 'pseudoglioma' due to opacities The infants described here are a brother and sister in the retrolental tissues. The causes of the condition who are the only children of nonconsanguineous are broadly divided into environmental and genetic.' 2 parents. The parents were examined and found to be Among genetic factors chromosomal aberrations and normal (the father had a questionable vascular Norrie's disease are relatively well known. The 13 anomaly in the far periphery of his left fundus, but it trisomy syndrome is the most frequently found was assumed to be nonspecific and unrelated to the http://bjo.bmj.com/ chromosomal abnormality, in which retinal dysplasia disease of his children). Family members of the is associated with various systemic malformations.3 patients have lived in the southwest region of the Norrie's disease is transmitted as an X-linked Kyushu Island of Japan. None of the accessible recessive 'disorder affecting only males, and mental relatives were willing to come for examination, but and hearing defects are occasionally associated.4" An according to the information obtained from the autosomal recessive disease has been postulated as parents probably no other relatives had been affected one of the genetically heterogeneous conditions,6 but with congenital ocular disease (Fig. 1). on September 23, 2021 by guest. Protected its existence has not been fully appreciated because of the scarcity of reported cases. This paper describes a sibship of a brother and sister who had congenital bilateral 'pseudoglioma' with a probable autosomal recessive gene. It is thought worthwhile to describe the cases in order to provide some evidence that congenital bilateral 'pseudoglioma' can be produced by an autosomal recessive gene and to draw attention to an important I ~~~~Male Fema consideration in genetic counselling. Normal I 0 Correspondence to Norio Ohba, MD, Department of Ophthal- Number of mology, Kagoshima University Faculty of Medicine, Usuki-cho normal sibs [lU 1208-1, Kagoshima-shi, Japan 890. Fig. 1 Pedigree ofthefamily. 631 Br J Ophthalmol: first published as 10.1136/bjo.65.9.631 on 1 September 1981. Downloaded from 632 Norio Ohba, Shinobu Watanabe, and Shingo Fujita BROTHER lental space there was a whitish opacity in the nasal A 3-month-old male infant was born at a full-term portion of the vitreous, which originated from a mal- gestation with a birth weight of 2980 g. During formed optic disc and extended in the vitreous toward pregnancy the mother had been healthy with negative the nasal equator of the lens. The opacity appeared as serological tests for syphilis, toxoplasmosis, and a severe form of falciform fold of retina and became rubella, and the delivery was uncomplicated; no wider as it coursed anteriorly. Through the relatively supplemental oxygen was given. The parents noticed clear vitreous in its temporal portion posterior and 'pupillary white reflexes' in the patient at the age of temporal fundus could be seen, and it was observed about 3 weeks, and any eye movement or fixation that the retinochoroid had a diffuse pepper-and-salt- behaviour had not developed at the age of 2 months. like appearance associated with scattered clumps of The patient was referred to us at the age of 3 months. dense pigments, and the retinal vessels were scarce On systemic examination the patient was seen to be and narrow. A fluorescein angiogram of the left eye a well-developed boy. Paediatric and neurological performed under a general anaesthesia revealed examinations were normal. Routine laboratory marked leakage of dyes from the poorly developed examinations, including urine analyses, blood retinal and choroidal vessels. Electroretinographic chemistry, and serological tests, were all normal. responses were absent in both eyes (Fig. 2). Computerised tomography of the skull revealed The patient has been followed up until the age of 3 slightly small eyeballs and dense opacities in the years. Physical and mental development was retrolental spaces, but the orbits and head were normal for a blind child, and there was no hearing normal. A chromosomal study revealed a normal 46 impairment. The abnormalities of the right anterior XY male karyotype. segments had gradually progressed. At the age of 7 On ocular examination the patient appeared to months the cornea had increased its diffuse haziness, have no light perception in either eye, and pupillary and the posterior synechiae developed totally, light reflexes were absent. The ocular adnexae and making the pupil secluded. Thereafter the right conjunctivae were normal. The eyeballs were not anterior chamber became more shallow and the iris soft, but they appeared mildly microphthalmic, and atrophy and lens opacity progressed, while the blood copyright. the corneae measured 8 x 9 mm in diameter. The right vessels became extinct. At the age of 12 months the cornea was a little hazy, and the anterior chamber was right complicated cataract became so dense that the shallow, the iris diaphragm was displaced anteriorly, retrolental mass and elongated ciliary processes were and the pupil dilated irregularly to 1% drops no long visible. atropine; partial synechiae were present. The left In contrast the left eye showed little change during anterior chamber was not very shallow, and the pupil the follow-up period, and a part of the fundus was still dilated widely and regularly to atropine drops. The visible at the age of 3 years. However, the patient lenses were clear, and elongated ciliary processes never showed any sign of vision. were visible behind them. In the right retrolental http://bjo.bmj.com/ space there was a fairly dense, greyish-white mass SISTER close to the posterior lens; a few aberrant vessels A 4-week-old female infant, she was the only sibling traversed in the mass, which seemed to originate from ofthe brother described above. After the first affected a disc-like structure lying deep in the mass. No details son the parents had been seriously concerned with a of the fundus could be visualised. In the left retro- recurrence of the disease in the second child, and they on September 23, 2021 by guest. Protected Fig. 2 The brother case. Left: Retrolental mass in the right eye. Centre: Mass in the nasal retrolental space in the left eye. Right: Elongated cilary processes are visible in the temporal vitreous in the left eye. Br J Ophthalmol: first published as 10.1136/bjo.65.9.631 on 1 September 1981. Downloaded from Primary vitreoretinal dysplasia transmitted as an autosomal recessive disorder 633 Fig. 3 The sister case. Left: Retrolental mass in the right eye. Right: Retrolental mass in the left eye. :.:.::::..:.,l... had been told of a relatively high risk if the child were the anterior chambers had become shallower, and the a boy, because the first child was possibly affected degree of the posterior synechiae progressed, result- with Norrie's disease, which is transmitted in an X- ing in an irregular pupil in the right and extremely linked recessive manner. No prenatal sexual diagnosis smal! one in the left. The vessels traversing the retro- was attempted, and the second child proved to be a lental mass gradually became extinct. At the age of 8 girl. She was born at a full-term gestation, with a birth months the cornea became opaque, and rubeosis weight of 2550 g. The mother had been well during iridis developed in both eyes. After the age of 1 year pregnancy, the delivery was uneventful, and no the lenses gradually became cataractous, so that the supplemental oxygen was given. As soon as a week retrolental opacities were barely visible. after her birth, contrary to prediction, the parents copyright. noticed 'pupillary white reflexes' very similar to those Discussion in the first child. The patient was first seen by us at the age of 29 days. The brother and sister described here had congenital On systemic examination the patient was found to bilateral blindness due to maldevelopment of the be well developed, and paediatric examinations were vitreous and retina. A vascularised opaque mass in normal. Routine laboratory examinations were the retrolental space was responsible for a prominent normal. A chromosomal study revealed a normal 46 clinical sign, that is, 'pseudoglioma,' noted as early as XX female karyotype. the first week of life. The fundal structures were http://bjo.bmj.com/ On ocular examination the patient appeared to invisible because of the extensive retrolental have no light perception in either eye. There were no opacities, except for one eye in the brother, whose pupillary light reactions, and a sign of 'pseudoglioma' partially clear vitreous permitted us to observe a was noted in both eyes.
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