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Year : 2003  |  Volume : 51  |  Issue : 4  |  Page : 355-357

Congenital glaucoma associated with 22p+ variant in a dysmorphic child

Jasti V Ramanamma Children's Eye Care Centre, Hyderabad, India

Correspondence Address:
Anil K Mandal
Jasti V Ramanamma Children's Eye Care Centre, Hyderabad
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Source of Support: None, Conflict of Interest: None

PMID: 14750628

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A case of congenital glaucoma with developmental delay and several dysmorphic features showing 22p+ chromosomal variant is reported.

Keywords: Congenital glaucoma, dysmorphia, chromosomal abnormality

How to cite this article:
Mandal AK, Prabhakara K, Reddy AB, Devi A R, Panicker SG. Congenital glaucoma associated with 22p+ variant in a dysmorphic child. Indian J Ophthalmol 2003;51:355-7

How to cite this URL:
Mandal AK, Prabhakara K, Reddy AB, Devi A R, Panicker SG. Congenital glaucoma associated with 22p+ variant in a dysmorphic child. Indian J Ophthalmol [serial online] 2003 [cited 2024 Feb 22];51:355-7. Available from: https://journals.lww.com/ijo/pages/default.aspx/text.asp?2003/51/4/355/14645

The association of congenital glaucoma with chromosomal abnormalities has been reported previously.[1],[2] We examined a patient with suspected congenital glaucoma who also had developmental delay and several dysmorphic features. Hence chromosomal and molecular analysis was performed.

  Case report Top

The patient was a two-month-old infant referred with bilateral buphthalmos and other extraocular manifestations. The main phenotypic features were mongoloid slanting of the eyelid fissures, low nasal bridge, hypertelorism, hypotonia, brachycephalic head with a flat occiput and mental retardation [Figure - 1]. The visual acuity could not be recorded as the child had severe photophobia. Ocular examination under anaesthesia showed severe corneal oedema with horizontal corneal diameter of 17 mm in both eyes. Intraocular pressure (IOP) was 28 mm Hg in both eyes. A clinical diagnosis of congenital glaucoma was made and primary combined trabeculotomy and trabeculectomy was performed for control of IOP. Two months after surgery the patient injured the right eye with his fingernail and presented with pain, redness and watering. Examination under anaesthesia showed corneal ulceration in the right eye; he was treated with intensive topical antibiotics (fortified cefazolin and fortified gentamicin drops) and anti-inflammatory (1% atropine eye drops) agents. The corneal ulcer healed in three weeks resulting in a vascularised corneal scar in the right eye [Figure - 2]. The patient was followed up for 30 months. At the last follow-up visit, his visual acuity was no light perception in the right eye and fixing and following light in the left eye. IOP in the right eye could not be recorded because of corneal scarring, and it was 14 mm Hg in the left eye.

Chromosomal analysis was done by blood lymphocyte culture and Giemsa banding technique. Fifteen metaphases were analysed and the karyotype of the patient was found to be 46, XY, 22p+ [Figure - 3][Figure - 4]a. The variant 22p+ was confirmed by Nucleolar Organizing Region (NOR) staining [Figure - 4]b.

  Discussion Top

The patient represents an unusual case of congenital glaucoma with several extraocular manifestations (dysmorphic features) and 22p+ variant (amplification of 'p' arm of chromosome 22). Although phenotypically the patient had several dysmorphic features along with congenital glaucoma, the chromosomal analysis did not reveal any gross cytogenetic defect. However, the karyotype revealed that the patient has an unusual 22p+ chromosome, which is considered a normal variant in some cases.[3] Chromosome 22p+ is also associated with late onset Alzheimer's disease,[4] psychomotor retardation,[5] spontaneous abortion and gonadal dysgenesis.[6] Since the predominant cause of primary congenital glaucoma is mutations in the CYP1B1 gene[7] (cytochrome P450), the coding region was amplified and sequenced, but disease causing mutations were not found. To our knowledge, the congenital glaucoma manifested along with this unusual extraocular phenotype has not been reported earlier, and the cytogenetic variant present here might provide a clue in identifying the underlying genetic defect. The phenotype seen in this patient seems to be both clinically and genetically heterogeneous. Although the association of 22p+ with congenital glaucoma is novel, it is not clear whether it is coincidental or causal.

  References Top

Broughton WL, Rosenbaum KN, Beauchamp GR. Congenital glaucoma and other ocular abnormalities associated with pericentric inversion of chromosome 11. Arch Ophthalmol 1983;101:594-97.  Back to cited text no. 1
Stambolian D, Quinn G, Emanuel BS, Zackai E. Congenital glaucoma associated with a chromosomal abnormality. Am J Ophthalmol 1988;106:625-27.  Back to cited text no. 2
Bernstein R, Dawson B, Griffiths J. Human inherited marker chromosome 22 short-arm enlargement: investigation of rDNA gene multiplicity, Ag-band size, and acrocentric association. Hum Genet 1981;58:135-39.   Back to cited text no. 3
Liu S, Gao C, Hu Y, Liu M, Cheng Z. Molecular and clinical cytogenetic studies of a family with a 22p+ marker chromosome. I Chuan Hsueh Pao 1993;20:7-11. [ Chinese]  Back to cited text no. 4
Trabalza N, Furbetta M, Rosi G, Donti E, Venti G, Migliorini Bruschelli G. Karyotype 46, XY, 22p+ in a male patient. J Genet Hum 1978;26:177-84.   Back to cited text no. 5
Percy ME, Dearie TG, Jabs EW, Bauer SJ, Chodakowski B, Somerville MJ et al. Family with 22-derived marker chromosome and late-onset dementia of the Alzheimer type: II. Further cytogenetic analysis of the marker and characterization of the high-level repeat sequences using fluorescence in situ hybridization. Am J Med Genet 1993;47:14-19.  Back to cited text no. 6
Stoilov I, Akarsu AN, Sarfarazi M. Identification of three different truncating mutations in cytochrome P4501B1 ( CYP1B1 ) as the principal cause of primary congenital glaucoma (buphthalmos) in families linked to the GLC3A locus on chromosome 2p21. Hum Mol Genet 1997;6:641-47.  Back to cited text no. 7


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


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