J Korean Ophthalmol Soc.  2009 May;50(5):698-703. 10.3341/jkos.2009.50.5.698.

Clinical Features and Surgical Outcomes of Congenital Cataracts in Patients With Oculocerebrorenal Syndrome

• Kim J
• Kim JH
• Cheong HI
• Yu YS

• KMID: 2212300
• DOI: http://doi.org/10.3341/jkos.2009.50.5.698

Abstract

PURPOSE:To describe the clinical features and surgical outcomes of congenital cataracts in patients with oculocerebrorenal syndrome.
METHODS
We retrospectively analyzed the age, sex, types of cataracts, operation method and time, perioperative visual acuity, postoperative intraocular pressure, and associated ocular disease in 10 patients (20 eyes) that had been diagnosed with congenital cataracts associated with oculocerebrorenal syndrome and undergone cataract surgery with a minimum follow-up period of 1 year.
RESULTS
All 10 patients were male and had bilateral cataracts detected on their first full ophthalmic examination. The mean age at diagnosis was 2.5 (2.5+/-1.4) months, and the mean duration of the follow-up period was 4.9 (4.9+/-4.2) years. The types of cataracts were nuclear sclerosis in 18 eyes of nine patients and cortical opacity in two eyes of one patient. All patients underwent irrigation and aspiration of the lenses, posterior capsulectomy and anterior vitrectomy in both eyes before the age of 1 year. Nine patients (18 eyes) underwent cataract extraction before the age of 6 months, and three patients (6 eyes) underwent the surgery before the age of 2 months. Secondary intraocular lens implantation was done in six eyes of three patients at the age of 34 (34+/-13.2) months. Postoperative best corrected visual acuity ranged from light perception to 0.15. Out of the nine patients who underwent cataract extraction before the age of 6 months, seven patients could fix and follow objects moderately. The visual acuity of patient who underwent cataract extraction of each eye at the age of 9 months and 12 months was hand motion. In addition to cataracts, glaucoma occurred in three eyes of two patients, corneal opacity in two eyes of one patient and strabismus in three patients.
CONCLUSIONS
Visual acuity after cataract surgery was poor in patients with oculocerebrorenal syndrome, especially when the diagnosis and surgery was delayed. Earlier identification and surgical removal of cataracts is recommended. Patients should be monitored regularly for other ocular diseases such as glaucoma, corneal opacity and strabismus.

Keyword

Congenital cataract; Lowe's syndrome; Oculocerebrerenal syndrome

MeSH Terms

Cataract
Cataract Extraction
Corneal Opacity
Eye
Follow-Up Studies
Glaucoma
Hand
Humans
Intraocular Pressure
Lens Implantation, Intraocular
Light
Male
Oculocerebrorenal Syndrome
Retrospective Studies
Sclerosis
Strabismus
Visual Acuity
Vitrectomy

Reference

References

1. Lowe CU, Terry M, MacLachlan EA. Organic aciduria, decreased renal ammonia production, hydrophthalmos and mental retardation. A clinical entity. AMA Am J Dis Child. 1952; 83:164–84.

2. Silver DN, Lewis RA, Nussbaum RL. Mapping the Lowe oculocerebrorenal syndrome to Xq24-q26 by use of restriction fragment length polymorphisms. J Clin Invest. 1987; 79:282–5.

3. Kim HB, Kim YK, Park SE. Lowe syndrome. J Korean Ophthalmol Soc. 1982; 23:179–81.

4. Park JH, Ahn BH. A case of Lowe syndrome. J Korean Ophthalmol Soc. 1994; 35:728–31.

5. Kim SW, Yu YS, Kim IO, et al. Two cases of Oculocerebrorenal syndrome of Lowe. J Korean Pediatr Soc. 1999; 42:419–23.

6. Suk KW, Lee SJ, Kim WS. Two cases of oculocerebrorenal syndrome in two brothers diagnosed after congenital cataract surgery. J Korean Ophthalmol Soc. 2006; 47:1502–11.

7. Olivos-Glander IM, Jänne PA, Nussbaum RL. The oculocerebrorenal syndrome gene product is a 105-kD protein localized to the Golgi complex. Am J Hum Genet. 1995; 57:817–23.

8. Lavin CW, McKeown CA. The oculocerebrorenal syndrome of Lowe. Int Ophthalmol Clin. 1993; 33:179–91.

9. Tripathi RC, Cibis GW, Tripathi BJ. Pathogenesis of cataracts in patients with Lowe's syndrome. Ophthalmology. 1986; 93:1046–51.

10. Kim KH, Ahn K, Chung ES, et al. Clinical outcomes of surgical techniques in congenital cataracts. Korean J Ophthalmol. 2008; 22:87–91.

11. Crouch ER, Crouch ER Jr, Pressman SH. Prospective analysis of pediatric pseudophakia: Myopic shift and postoperative outcomes. J AAPOS. 2002; 6:277–82.

12. Kruger SJ, Wilson ME Jr, Hutchinson AK, et al. Cataracts and glaucoma in patients with oculocerebrorenal syndrome. Arch Ophthalmol. 2003; 121:1234–7.

13. Walton DS, Katsavounidou G, Lowe CU. Glaucoma with the oculocerebrorenal syndrome of Lowe. J Glaucoma. 2005; 14:181–5.