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   Table of Contents      
BRIEF REPORT
Year : 2001  |  Volume : 49  |  Issue : 4  |  Page : 271-2

Angle closure glaucoma in nanophthalmos and pigmentary retinal dystrophy : a rare syndrome.


L V Prasad Eye Institute, L V Prasad Marg, Banjara Hills, Hyderabad, India

Correspondence Address:
A K Mandal
L V Prasad Eye Institute, L V Prasad Marg, Banjara Hills, Hyderabad
India
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Source of Support: None, Conflict of Interest: None


PMID: 12930123

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  Abstract 

The simultaneous occurrence of nanophthalmos, angle closure glaucoma and pigmentary retinal dystrophy documented in the present case represents a rare syndrome.

Keywords: Adult, Female, Fundus Oculi, Glaucoma, Angle-Closure, complications, diagnosis, Humans, Microphthalmos, complications, diagnosis, Photography,


How to cite this article:
Mandal A K, Das T, Gothwal V K. Angle closure glaucoma in nanophthalmos and pigmentary retinal dystrophy : a rare syndrome. Indian J Ophthalmol 2001;49:271

How to cite this URL:
Mandal A K, Das T, Gothwal V K. Angle closure glaucoma in nanophthalmos and pigmentary retinal dystrophy : a rare syndrome. Indian J Ophthalmol [serial online] 2001 [cited 2019 Dec 10];49:271. Available from: http://www.ijo.in/text.asp?2001/49/4/271/14687

The simultaneous occurrence of nanophthalmos, angle closure glaucoma and pigmentary retinal dystrophy documented in the present case represents a rare syndrome.

Nanophthalmic eyes are frequently associated with angle closure glaucoma. The association of angle closure glaucoma and pigmentary retinal dystrophy has also been reported. We report a rare case of simultaneous occurrence of nanophthalmos, angle closure glaucoma and pigmentary retinal dystrophy, a combination representing a rare syndrome.


  Case report Top


A 32-year-old Asian woman, born of a consanguineous marriage was initially examined at our institution in May 1993 with complaints of poor vision and night blindness in the left eye since childhood. She also complained of a right divergent squint. She gave a history of surgery in past (details not known) in her right eye at the age of 10 years following which she lost all useful vision in that eye.

On examination, her best corrected visual acuity was light perception in the right eye and counting fingers at close range with a +10.00 Dsph in the left eye. The patient was a short-statured, average built female and a general examination showed no systemic abnormality. She had deep-set eyeballs, narrow palpebral apertures and small corneas. There was a right divergent squint and complicated cataract associated with hypotony. [Figure:1] shows a small left eye with a small cornea, with horizontal corneal diameter of 10.00 mm. [Figure:2] shows markedly reduced anterior chamber (AC) depth. The central AC depth in the left eye was 1.22 mm as measured by Haag-Streit 900 pachometer. The applanation intraocular pressure (IOP) in the left eye was 60 mmHg. Gonioscopy revealed an extremely narrow angle with 360° peripheral anterior synechiae. Fundus evaluation could not be done at this stage because of extreme miosis.

Based on these findings, a provisional diagnosis of chronic angle closure glaucoma with microphthalmos was made. She was treated initially with antiglaucoma medications - hyperosmotic agents (350 cc 20% IV mannitol) and aqueous suppressant (tab acetazolamide 500 mg stat. and topical 0.5% timolol maleate). Following this treatment the IOP reduced to 28 mmHg. YAG laser iridotomy was peformed on the same day. Automated perimetry by Humphrey visual field analyser (HFA, Model 640, Humphrey Systems, Dublin, CA) revealed a central island of vision in the left eye. The patient subsequently underwent trabeculectomy without any antifibrotic therapy for control of IOP. No prophylactic sclerostomy was done; however during surgery it was noticed that the scleral coat was thickened. Following trabeculectomy, her IOP was controlled without any antigluacoma medications for two years. At last follow-up her best corrected visual acuity in the left eye was 6/60 with +12.00 D.

B-scan ultrasonography of the left eye showed diffuse choroidal thickening [Figure:3] and the axial length of the left eye was 15.25 mm (measured by A-scan using a 10 mHz contact transducer). The lens thickness of the left eye was 3.17 mm. Fundus evaluation showed marked disc pallor, attenuated arteries [Figure:4], and postequatorial bone spicule pigmentation. With the above findings a final diagnosis of angle closure glaucoma in nanophthalmos associated with pigmentary retinal dystrophy was established. After two years the patient was lost to follow-up.


  Discussion Top


Nanophthalmic eyes are frequently associated with angle closure glaucoma.[1] The association of angle closure glaucoma with pigmentary retinal dystrophy is also not infrequent.[2] The simultaneous occurrence of nanophthalmos, angle closure glaucoma and pigmentary retinal dystrophy has been conclusively documented by Ghose et al,[3] who concluded that the triad could be a new syndrome. Subsequenly in 1987, MacKay et al[4] reported a pedigree of a family with seven related patients who had the combination of pigmentary retinopathy, cystic macular degeneration, high hyperopia, nanophthalmos and angle closure glaucoma. They concluded that these associations represent a distinct recessively inherited syndrome. Interestingly enough, this syndrome was reported many years ago by Hermann.[5] In 1958, he described a pedigree with 13 affected members in four generations and the inheritance was autosomal-dominant.

The case reported by Ghose et al[3] had no information regarding the pedigree; so it is not known whether the parents were consanguineous. The case in the present report was born of a consanguineous marriage and examination of her brothers and sisters and children revealed no abnormality.

In conclusion, the association of nanophthalmos, angle closure glaucoma and pigmentary retinal dystrophy represents a district syndrome. Hermann[5] should be credited with describing this rare association in 1958. Other than the reports of Ghose et al[3] and MacKay et al,[4] the present report represents yet another description of this rare syndrome.

 
  References Top

1.
Kimbrough RL, Trempe CS, Brockhurst RJ, Simmons RJ. Angle-closure glaucoma in nanophthalmos. Am J Ophthalmol 1979;88:572-79.  Back to cited text no. 1
[PUBMED]  [FULLTEXT]  
2.
Gartner S, Schlossman A. Retinitis pigmentosa associated with glaucoma. Am J Ophthalmol 1949;32:1337-50.  Back to cited text no. 2
[PUBMED]  [FULLTEXT]  
3.
Ghose S, Sachdev MS, Kumar H. Bilateral nanophthalmos, pigmentary retinal dystrophy and angle closure glaucoma: A new syndrome? Br J Ophthalmol 1985;69:624-28.  Back to cited text no. 3
[PUBMED]  [FULLTEXT]  
4.
Mackay CJ, Shek MS, Carr RE, Yanuzzi LA, Gouras P. Retinal degeneration with nanophthalmos, cystic macular degeneration and angle closure glaucoma: A new recessive syndrome. Arch Ophthalmol 1987;105:366-71.  Back to cited text no. 4
[PUBMED]  [FULLTEXT]  
5.
Hermann P. Le syndrome microphalmie-retinite pigmentaire-glaucoma. Arch Ophthalmol 1958;18-17-24.  Back to cited text no. 5
    



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