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(Accepted I5 January 1992)

Autosomal dominant congenital miosis with megalocornea O

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F. M. MEIRE'* and J. W. DELLEMAN2

University Clinic, Department of Pediatric Ophthalmology, Ghent, Belgium; 2The Netherlands Ophthalmic Research Institute, Amsterdam, The Netherlands ABSTRACT. A family with A D congenital miosis is presented. The ocular symptoms were: megalocornea, iris translucency, microcoria with poor pupillary dilatation and goniodysgenesis with anterior insertion of the iris. This observation confirms that in congenital miosis abnormal development of the whole anterior eye segment may occur. The patients have an increased risk to develop glaucoma. If retinoscopy is impossible due to pin-point pupils, ultrasonic biometry to determine the axial length is recommended. An optical iridectomy could improve visual performance at low illumination; the complaints of photophobia, which are related to the iris translucency, persist. Key words: miosis; megalocornea; iris translucency; photophobia; nyctalopia; goniodysgenesis; autosomal dominant; myopia

INTRODUCTION Congenital miosis as a distinct congenital abnormality was first described by Wilde in 1862'. The pupils are considered abnormally small if their diameter is less than 2 mm when the eyes are looking at a distant object in diffuse daylight2. In this anomaly pupillary dilatation with mydriatics is nearly absent ;pupils dilate at the most to 2.5 to 3 mm. Congenital bilateral miosis (microcoria) is rare. Hereditary cases of congenital miosis were always of the autosomal dominant type. Previously megalocornea in AD congenital miosis has O

Dedicated to Professor Barrie Jay

* Correspondencefo: F. M. Meire. University Clinic Ghent, Department of Ophthalmology, De Pintelaan 185, B-9000 Ghent, Belgium

been reported only once by Polomeno and Milot3. A sporadic case was reported by Vai14. We present a family with congenital miosis and megalocornea. MATERIAL AND METHODS The pedigree of the family is shown in Fig. 1. The proband (IV.3) was first seen at age 17 at an Institute for Visually Impaired Children. He could not read the blackboard at school and therefore required low vision aids. At that time we were impressed by his miotic pupils. Subsequently his father, who also presented with miotic pupils, was examined. Ocular examination included determination of visual acuity and refraction, slit lamp examination, applanation tonometry, ophthalmoscopy, keratometry and bio-

Ophthalmic Paediatrics and Genetics - 1992, Vol13, No. 2, pp. 123-129 0Aeolus Press Buren (The Netherlands) 1992

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F. M. Meire and J. W. Delleman

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Fig. 2. Case IV.3. Congenital miosis. The collarette is displaced towards the pupillary border. Iris hypoplasia is present in the peripheral part (that was very translucent).

first time, his visual acuity was 0.1 for each eye with -2.50 cyl 1.75 x 90". Retinoscopy was impossible due to the miotic pupils. The A-scan revealed an increased axial length (Table 1). Myopic correction (OD: - 16.5 cyl + 2.5 x go", 0 s : - 17.5 cyl 2.5 x 90') with contact lenses improved his visual acuity to 0.9. He was very photophobic and he complained of nyctalopia. Examination of the corneas revealed megalocorneas (13 mm) with normal radii, normal transparency and without pigment dispersion. The AC depths were within the normal range (Table 1). The irides had a peculiar aspect. Three parts could be distinguished: a peripupillary part inside the

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Fig. 1. Pedigree of a family with A D congenital miosis. Reportedly, 11.7 had miotic pupils and was highly photophobic.

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metry of the eye by ultrasonographic method (Ascan). D a r k a d a p t a t i o n was performed with the Goldmann adaptometer.

RESULTS CaseZV.3. At age 17, when he was examined for the

TABLE 1 . Biometry of the eyes in our patients with congenital miosis

Corneal diameter

OD

Corneal radius

OD

A C depth

OD

Pupil diameter

OD

Lens thickness

OD

Axial length

OD

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0s 0s 0s

0s

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Case 111.3

(mm)

lmml

13.00 13.00 7.75 7.66 3.20 3.50 1.50 1 .50 3.50 4.00 29.00 29.50

12.50 12.50 8.04 8.00 2.30 2.50 optical iridectomy optical iridectomy 4.00 IV.3 4.00 111.3 28.50 28.40

x+ SD 11.78 +0.37 7.86+0.26 3 .OO

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3.69 t 0.66 4.66 + 0.36 23.10+ 0.82

Autosomal dominant congenital miosis with megalocornea

Dark adaptation in congenital miosis I

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Fig. 3. Case IV.3. Dark adaptation curve in congenital miosis; prolonged cone segment and elevated final threshold value.

collarette (that was displaced centrally towards the pupillary margin) ;a yellowish zone and a peripheral part which was hypoplastic and translucent (Fig. 2). Both irides showed iridodonesis. The pupils measured 1.5 mm and 2.5 mm after dilatation with mydriatics. The lenses were in place. Funduscopy revealed a myopic conus of the optic discs; the peripheral retina could not be examined. The intraocular pressure was 16 mmHg. The dark adaptation curve was biphasic with a prolonged cone segment and an elevated final threshold value (Fig.

3). Case 111.3. The father of the propositus underwent bilateral optical iridectomy for microcoria at age 11 (Fig. 4). Since three years he is followed for a cho-

Fig. 4. Case 111.3. Optical iridectomy has been performed for congenital miosis.

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F. M . Meire and J. W. Delleman

Dark adaptation in congenital miosis I

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Fig. 5. Case 111.3. Dark adaptation curve in congenital miosis with an optical iridectomy; prolonged cone segment and normal final threshold value.

roidal melanoma in his left eye. His visual acuity was0.5intherighteyewith - 13cyl + 5.25 x 105" and

Autosomal dominant congenital miosis with megalocornea.

A family with AD congenital miosis is presented. The ocular symptoms were: megalocornea, iris translucency, microcoria with poor pupillary dilatation ...
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