British Journal of Ophthalmology, 69, 624-628

Bilateral nanophthalmos, pigmentary retinaldystrophy, and angle closure glaucoma-a newsyndrome?SUPRIYO GHOSE, MAHIPAL S SACHDEV, AND HARSH KUMAR

From the Dr Rajendra Prasad Centrefor Ophthalmic Sciences, All-India Institute ofMedical Sciences, AnsariNagar, New Delhi - 110029, India

SUMMARY An unusual case of bilateral nanophthalmos with pigmentary retinal dystrophy andangle closure glaucoma is presented. This is probably the first published report of the establishedassociation of all these three entities in the same patient. The aetiological possibilities and clinicalsignificance are discussed.

The not infrequent association of angle closureglaucoma with primary pigmentary degeneration ofthe retina has been known since 1862.' The suscept-ibility of microphthalmic eyes to develop angleclosure glaucoma is well established.2 A few reportsare also available of microphthalmos with pig-mentary retinal dystrophy.3 Interestingly enough, themanifestation of all these three disorders in the samepatient does not seem to have been conclusivelydocumented previously.

Case report

A 56-year-old male teacher presented complaining ofpoor vision, more so in the right than the left eye,since childhood. He had used high hypermetropicglasses since the age of 12 years, when he had acorrected vision of 6/12 in both eyes. He alsocomplained of night blindness associated with pro-gressively worsening vision since the age of 30. Overthe last 10 years the vision had further deteriorated inhis right eye to finger counting only. Transientblurring of vision on near work had been present forthe past six months, without any associated pain orwatering.He was given elsewhere a course of subconjunc-

tival injections in both eyes, but without improve-ment. However, the vision in the left eye remaineduseful. No history of pain, redness, watering, orCorrespondence to Dr Supriyo Ghose, Dr Rajendra Prasad Centrefor Ophthalmic Sciences, All-India Institute of Medical Sciences,Ansari Nagar, New Delhi - 110029, India.

coloured haloes could be elicited. His personal andfamily histories were non-contributory.

General examination revealed a tall, averagelybuilt male, with no systemic abnormality. On ocularexamination, his best corrected visual acuity wascounting fingers at 2 metres OD and 6/24 OS with+ 14 Dsph OU. The eyeballs were deep set (Fig. 1)with narrowed palpebral apertures, small corneas(horizontal diameter of 9-5 mm both eyes), markedlyshallow anterior chambers, and minimal lenticularchanges. The pupils showed an anisocoria; the rightpupil was the larger (Figs. 2a, b) and gave a poor

Fig. 1 Note the deep setsmall eyeballs.624

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Bilateral nanophthalmos, pigmentary retinal dystrophy, and angle closure glaucoma-a new syndrome? 625

Fig. 2 Close-ups ofthe (a) righteye and (b) left eye. Note the largerpupil in the right eye, with a normaliris pattern.

-ig. 2a rig. 240

direct response to light. The consensual light reflex inthe left eye was also sluggish. No patch of iris atrophywas noted in either eye.

Ophthalmoscopic examination through slightlyhazy media revealed hypermetropic discs with mildpallor (more marked in the right eye), normal cup-

disc ratios, attenuated arteries, and bone spiculepigmentation together with clumps of pigment,especially in the perivascular area in the equatorialregion (Fig. 3). The macula also showed pigmenta-tion, more in the right than the left eye.On biomicroscopy only a chink of the anterior

chamber about 1/4 the thickness of the cornea was

found adjacent to the limbus in both the eyes (Figs.4a, b, 5a, b).On investigation the intraocular pressures (IOP)

Fig. 3 Right eyefundus photograph (through slightly hazymedia) showing apale disc, attenuated arteries, andpigmentary dystrophy. Note the macular involvement.

were normal. A narrow angle with markedly narrowentry was observed gonioscopically in both eyes.Dry refraction failed to improve the vision any further.On Goldmann perimetry, a bilateral constriction ofboth central and peripheral fields, with a ringscotoma in the 20-30° isoptres, was recorded.

Anterior chamber depths of 1-90 mm OD and 1-94mm OS were measured by the Haag-Streit 900pachometer. On A-scan biometry the axial lengthswere 18-2 mm OD and 18-3 mm OS, with a lensthickness of 4-9 mm OU, and anterior chamberdepths of 1-90 mm OD and 1-92 mm OS.

Electroretinography recordings (without pupillarydilatation) were subnormal in both eyes. Visuallyevoked responses using the pattern reversal stimulishowed no detectable pattern in the right eye and anamplitude of 8 RV with a latency of 105 ms in the lefteye (control amplitude 6-10 ,uV; latency <100 ms).The visual prognosis was explained to the patient.

In view of his shallow anterior chambers and highhypermetropic status he was not advised to haveprovocative tests or miotics, but only a periodicfollow-up with us, for which he regularly attended forfour months.

Six months later he presented with complaints ofnausea, blurred vision, coloured haloes, redness, andpain and watering of four days duration in the righteye. Owing to unavoidable circumstances he couldnot attend the hospital immediately on the onset ofthese symptoms, though he had been told of thepossibility of their occurrence and their significance.

Ocular examination carried out then revealed abest corrected visual acuity of finger counting at1 metre OD and 6/24 OS. Other salient features in theright eye included marked conjunctival and ciliarycongestion, corneal oedema, a few keratic precipi-tates with an aqueous flare, a somewhat oval, fixed,

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Supriyo Ghose, MahipalS Sachdev, and Harsh Kumar

Fig. 4 Initial slit-lampphotographs ofthe right eye. Notethe (a) markedly reduced depth ofthe anterior chamber adjacent to thelimbus, more evident in (b) aperipheral section.

FIg. 4a Fig. 4b

mid-dilated pupil with sphincteric atrophy (Figs. 6a,b), and a raised IOP of 54 mmHg in the right eye. Ongonioscopy a closed angle with peripheral anteriorsynechiae in the right eye and a narrow angle withnarrow entry as before in the left eye were observed.A diagnosis of an acute attack of angle closureglaucoma in the right eye was made and medicaltherapy promptly instituted. The control of IOP inthe right eye being inadequate on miotics alone, a

trabeculectomy was performed, resulting in satis-factory control of the IOP postoperatively. He isawaiting a prophylactic peripheral iridectomy in theleft eye.

Discussion

The term nanophthalmos (pure microphthalmos)indicates an eye which is normal other than being

Fig. 5 (a, b) Slit-lampphotographs ofthe left eye showingfeatures similar to those ofthe righteye (as seen in Fig. 4).

Fig sa

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Bilateral nanophthalmos, pigmentary retinal dystrophy, and angle closureglaucoma-a new syndrome? 627

Fig. 6 (a) Close-up ofthe right eyeduring acute attack ofangle closureglaucoma: the hazy cornea and ovalmid-dilatedpupil with sphinctericatrophy are obvious. (b) Thecornealoedema is more evident inthe slit-lamp section: theperipheralchink ofanterior chamber is nolonger visible (compare with Fig.4a).

Fig. 6a Fig. b

uniformly reduced in size.245 Measurements ofthe nanophthalmic eye have been infrequentlydocumented. The critical value of the eyeball dimen-sions at which an eye is judged nanophthalmic havenot been clearly defined. Two-thirds of the normalvolume and an axial length of 16-18*5 mm have beenproposed.4 A reduction of the normal eye size by15% has also been suggested as a sufficient criterionfor diagnosing nanophthalmos.5 By these criteria ourpatient has bilateral nanophthalmos. However, ananophthalmic eye has also been categorised as onehaving a sagittal diameter of 13-17 mm.6 Besidescongenital angle anomalies, which are common4 andpredispose nanophthalmic eyes to simple glaucomalater, these eyes are usually hypermetropic, with arelatively large lens and a remarkably high ratio oflens volume to eye volume.7 This plays an importantcontributory role in the shallow anterior chamberencountered in nanophthalmos. Presumably growthof the lens with age increasingly crowds the alreadydevelopmentally shallow anterior chamber, therebyrendering these eyes susceptible to angle closureglaucoma, as in our case.Our findings on investigation of the patient corrob-

orated the clinical diagnosis of pigmentary retinaldystrophy. The clumps of pigment along with theclassical bone spicule pigmentation, together withthe macular involvement, are recognised 'variantfeatures. Primary pigmentary degeneration of theretina is well known in having certain systemic andocular associations, of which glaucoma is welldocumented. Most authors mention open angleglaucoma.8 The association of angle closureglaucoma with retinitis pigmentosa seems to berather rare in published reports, and it has even beenproposed that this association may be fortuitous.9Whatever the type of glaucoma, the clinical and

histopathological reports available have not eluci-dated its pathogenesis in relation to retinitis pigmen-tosa. ' I

Maldevelopment of the retina, retinitis pigmen-tosa, and other retinal anomalies have also beenreported in nanophthalmos.34 The aetiology of theassociation of nanophthalmos and retinitis pigmen-tosa also remains unexplained. It is possible that inthe basically underdeveloped eye of nanophthalmosthe lack of full development of the retina in the laterpart of fetal life is responsible for pigmentary retinaldystrophic changes.The association of nanophthalmos with pigmen-

tary retinal dystrophy,3 pigmentary retinal dystrophywith glaucoma,'89 and glaucoma with nanophthal-mos - has been reported previously. However, thesimultaneous occurrence of all, these three entities,namely, nanophthalmos, pigmentary retinal dys-trophy, and glaucoma, seems to have been des-cribed only twice.""' The first report,"' in threebrothers, was apparently of simple glaucoma, therebeing no mention of detailed symptomatology or ofangle closure glaucoma. In the second report fourpatients of the 13 affected seem to have had ocularfeatures suggestive of angle closure glaucoma,though no measurements of anterior chamber depthor gonioscopic or biometric data were included.''Again, in this rather detailed communication there isno categorical mention of the term angle closureglaucoma. This report has subsequently been inter-preted as 'microphthalmia' with a 'somewhat atypicaldystrophia retinae pigmentosa' and 'ocular hyperten-sion with subacute attacks'.'

In our patient there is no doubt of the establisheddiagnosis of angle closure glaucoma in associationwith nanophthalmos and pigmentary retinaldystrophy. In the absence of other family members

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Supriyo Ghose, MahipalS Sachdev, and Harsh Kumar

being affected this case seems to have been sporadicin nature.

Since nanophthalmic eyes seem to be anatomicallypredisposed to angle closure glaucoma, and pigmen-tary retinal dystrophy has been reported with boththese entities, it is possible that the occurrence of allthree in a given eye may have been overlooked inearlier reports. It appears that if a case presents withany two of these three entities, it is worth diligentlysearching for the third component, even if only toexclude it.

References

1 Gartner S, Schlossman A. Retinitis pigmentosa associated withglaucoma. Am J Ophthalmol 1949; 32: 1337-50.

2 Phelps CD. Glaucoma associated with retinal disorders. In:Ritch R, Shield MB, eds. The secondary glaucomas. St Louis:Mosby, 1982:150-61.

3 Waardenburg PJ. In: Waardenburg PJ, Franceschetti A, KleinD, eds. Genetics and ophthalmology. Assen: Royal VanGorcum, 1961; 1: 764.

4 Duke-Elder S. System ofophthalmology. Vol 3 Part 2. London:Kimpton, 1964; 3 (2): 488-95.

5 O'Grady RB. Nanophthalmos. Am J Ophthalmol 1971; 71:1251-3.

6 Friedman AH, Kwitko ML, Ritch R. Glaucoma associated withcongenital disorders. In: Ritch R, Shield MB, eds. Thesecondaryglaucomas. St Louis: Mosby, 1982: 51-66.

7 Kimbrough RL, Trempe CS, Brockhurst RJ, Simmons RJ.Angle closure glaucoma in nanophthalmos. Am J Ophthalmol1979; 88:572-9.

8 Kogbe OI, Follmann P. Investigations into the aqueous humourdynamics in primary pigmentary degeneration of the retina.Ophthalmologica 1975; 171: 165-75.

9 Duke-Elder S, Jay B. System of ophthalmology. London:Kimpton, 1969; 11: 692.

10 Walsh FB, Hoyt WF. Clinical neuroophthalmology. Baltimore:Williams and Wilkins, 1969; 1: 651-2.

11 Hermann P. Le syndrome microphtalmie-retinite pigmentaire-glaucome. Arch Ophthalmol (Paris) 1958; 18: 17-24.

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doi: 10.1136/bjo.69.8.624 1985 69: 624-628Br J Ophthalmol

 S Ghose, M S Sachdev and H Kumar syndrome?angle closure glaucoma--a newpigmentary retinal dystrophy, and Bilateral nanophthalmos,

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