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Year : 1985  |  Volume : 33  |  Issue : 2  |  Page : 117-120

A family with rare multiple congenital ocular abnormalities

Department of Ophthalmology, Silchar Medical College, Silchar, India

Correspondence Address:
Harsha Bhattacharjee
Department of Ophthalmology, Silchar Medical College, Silchar
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Source of Support: None, Conflict of Interest: None

PMID: 3938775

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How to cite this article:
Bhattacharjee H. A family with rare multiple congenital ocular abnormalities. Indian J Ophthalmol 1985;33:117-20

How to cite this URL:
Bhattacharjee H. A family with rare multiple congenital ocular abnormalities. Indian J Ophthalmol [serial online] 1985 [cited 2021 Aug 3];33:117-20. Available from: https://www.ijo.in/text.asp?1985/33/2/117/30835

Prepapillary hyaloid cyst, hypoplasia of the optic nerve, persistent pupillary membrane and remnants of the Bergmeister's papilla are well discussed in the literature. The former two conditions are rare.

  Case report Top

A family belonging to the slum area near Gauhati railway station was investigated where all the above mentioned congenital ocular abnormalities were found in two different members of the same generation and the other members were normal. Investigation consti­tuted detailed interrogations, clinical examina­tions, necessary and available laboratory investigations, recording of the findings and macro photographic documentation.

Case No-1: A 22 years old, male, Hindu attended O.P.D. for treatment of blepharitis. On routine examination he was found to have normal visual acuity (6/6) with congenital abnormalities in the pupillary area and in the optic nerve head. These were (a) Pigmented membranous patches (both star shaped and irregularly geographical shaped) on the ante­rior lens capsule in the pupillary area of both eyes. The patches were interconnected by pigmented fibres. Few fibres ran from the iris and found attachment to those patches and also separately on the anterior lens capsule. In the left eye a pigmented fibre ran tangentially across the pupillary area with multiple atta­chments with the lesser circle. [Figure - 1][Figure - 2].

An order of similarity is noted between the eyes i.e. gross persistence of the pupillary membrane in the nasal half of both pupils. Pupillary movements in response to light were normal and uniform dilatation (with mydriatic) with stretching of the filamentary attachments, which normally bulged and floated in to the anterior chamber were observed.

(b) An oval pearly grey, cystic mass was found upon the infero-temporal quadrant of the right optic disc which was surrounded by a pigment collar with an infero temporal crescent. The size of the cyst was approxima­tely 4 of the disc diameter. Central field of vision and fundus fluorescein angioscopy were normal. Fundus photographs at the interval of six months [Figure - 3][Figure - 4] shows no variations. ([Figure - 4] taken at six months inter­val). The case was diagnosed as bilateral persistent pupillary membrane with pre papil­lary hyaloid cyst in the right eye.

Case No. 2: The second affected member (detected on family tree investigation) was a 10 years old mentally retarded boy with isola­ted bilateral posterior segment abnormalities in relation to the discs. Visual status being OD: 6/60, and OS: HM + with normal refraction findings.

Fundus picture [Figure - 5] and [Figure - 6] showed reduced size of both the discs and an asym­metry between them. (The left one was much smaller than the right).

The right disc was grey in colour and was elevated inside the eye as a knob like struc­ture from the surface of the retina (+4D). Physiological cup was absent in both eyes with ill defined disc margin in the left. Whitish glistening glial like tissue was observed in front of the disc (more in the left side) in the form of veils, extending to some distance in the retina along with branches of the reti­nal artery. No other vascular abnormality was found. Macular area and general fundus were normal. X ray of the skull and optic foramen were normal The case was diagnosed as bilateral hypoplasia of the optic nerve with remnants of epithelial papilla of Bergmeister's in the form of pre papillary veil.

Besides these two members of the same family all other family members had no ocular or systemic abnormality. There is no clue sug­gestive of biological or environmental changes.

  Discussion Top

The hyaloid system and tunica vasculosa lentis comprise the foetal vascular system which undergoes complete atrophy and disapp­earance at birth, as a part of normal development. There are some unknown fac­tors, causing temporary arrest of development, resulting in persistence of the vascular system in parts and in different forms depending upon their time of action. Cystic formation of the mesodermal tissue surrounding the posterior limit of the hyaloid artery along with the remnants of the Bergmeister's papilla was also observed.

Persistence of the pupillary membrane is very common. In the case No. 1 a diagnostic problem confronted us regarding the pre papil­lary hyaloid cyst in the right eye, as it may mimic juxta papillary cysticercus. Normal visual acuity, absence of inflammatory signs, stationary character of the cyst and presence of persistent pupillary membrane confirmed the diagnosis of this rare condition. Associated other retinal findings like macular haemor­rhage, pigmentary changes, amblyopia[3],[4],[5] were absent in this case.

Failure of normal development of retinal ganglion cells (at 17 mm stage) leads to an absence or reduction of the optic nerve fibres resulting in aplasia or hypoplasia of the optic nerve, with normal retinal blood vessels[6]. 50% of such cases are bilateral and very often associated with anterior segment abnormality[6] and gross reduction of vision. A few cases with better vision have also been reported[7]. Radiograph of the optic foramen is generally abnormal but optic nerve hypoplasia with normal size optic foramen has also been reported[6]. Rarely the condition may be familial. In case No. 11. small size and asym­metry between the optic discs, gross reduction of vision without any refractive abnormality with normal retina and its blood vessels supports the diagnosis of bilateral optic nerve hypoplasia[7],[8],[9],[10],[14]. Diagnosis of the prepapillary veil in this case may be difficult be­cause often h} periplastic primary vitreous may be associated with optic nerve hypoplasia[11]. Absence of associated radial retinal folds pigmentary macular changes, macular hole, retinal detachment[11],[12] and colobomatous; defects of the lens[13] supports the diagnosis of pre papillary veil which is a remnant of the papilla of Bergmeister, Normally it under­goes atrophy by 8j months. Knob like prominence of the right disc may be due to a rela­tively small posterior scleral opening.

  Summary Top

A family is reported with isolated persis­tent papillary membrane in both eyes with pre papillary hyaloid cyst in the right eye in elder brother and bilateral optic nerve hypo­plasia with remnants of Bergmeister's papilla in the younger brother, with all other family members being normal.

  References Top

Duke Elder, S., 1964. System of Ophthalmology. Voll III. Part 2. Henry Kimpton, p 765.  Back to cited text no. 1
Duke Elder, S , 1963. System of Ophthalmology, Voll III. Part 2. Henry Kimpton. London.  Back to cited text no. 2
Francois, J., 1950. Brit. J. Ophthalmol., 34. 365.  Back to cited text no. 3
Hilgartner, 1940, Amer. J. Ophthalmol., 23: 186.  Back to cited text no. 4
Tower, 1952, Arch Ophthalmol. (Chicago). 48: 343.  Back to cited text no. 5
Helveston, M.E, 1966, Arch Ophthalmol., 76: 195.  Back to cited text no. 6
Jerome. B and Foster, H.W. 1948, Arch, Oph­thalmol. 39: 669.  Back to cited text no. 7
Whinery, R.D., and Blodi, F.C., 1963. Trans. Amer. Acad Ophthalmol. Otolaryng. 67: 733.  Back to cited text no. 8
Sommerville, F., 1962, Brit. J. Ophthalmol., 46: 51.  Back to cited text no. 9
Sobanoko Goetz., 1962, Ophthalmological, 145: 54.  Back to cited text no. 10
Pruett, R.C., 1975, Amer. J. Ophthalmol., 80, 625.  Back to cited text no. 11
Michalson, I.C., 1965, Invest. Ophthalmol. 4, 1004.  Back to cited text no. 12
Hovland, K.R, Schepens, C.L., and Freeman., H.M., 1968, Arch. Ophthalmol. 80: 325.  Back to cited text no. 13
Scheie, H.G., and Adler, F.H., 1941, Arch Ophthalmol. 26 . 61,  Back to cited text no. 14


  [Figure - 1], [Figure - 2], [Figure - 3], [Figure - 4], [Figure - 5], [Figure - 6]


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