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LETTERS and Iris Hypoplasia

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LETTERS and Iris Hypoplasia Br J Ophthalmol 2005;89:1063–1071 1063 Br J Ophthalmol: first published as 10.1136/bjo.2004.061499 on 15 July 2005. Downloaded from PostScript.............................................................................................. adhesions between iris and Schwalbe’s line, superolateral orbit, coloboma of the lateral LETTERS and iris hypoplasia. No eyelid colobomata part of the lower lid, pseudocoloboma of the were present. Posterior segment examination eyelids, lateral canthal dystopia, nasolacrimal (fig 1) revealed atrophic macular degenera- obstruction, orbital and limbal dermoids, and 4 5 Macular degeneration associated tion in both eyes and a choroidal neovascular microphthalmos. Hansen et al have observed membrane (CNV) in the left eye confirmed bilateral iris, choroid, and optic nerve colo- with a novel Treacher Collins on fluorescein angiography. No drusen were bomata. Cataracts, lacrimal duct atresia, tcof1 mutation and evaluation of seen in either eye. Mutation screening of pupillary ectopia, distichiasis, and uveal this mutation in age related TCOF1 gene was instigated because his facial colobomas have been reported less fre- appearance and deafness suggested possible quently. A solitary case with aniridia, sclero- macular degeneration TCS. A mutation was identified in exon 13 cornea, and retinal maldevelopment has also Treacher Collins syndrome (TCS) results from (2055 del AG), which is predicted to create a been reported.6 We believe this is the first defects in a nucleolar trafficking protein premature stop codon. In view of this unique report of atrophic macular degeneration and (Treacle) coded for by the TCOF1 gene.1 The genotype and phenotype we wished to eva- CNV demonstrated in a patient with a proved purpose of this report is, firstly, to describe an luate whether this mutation in the TCOF1 molecular diagnosis of TCS. isolated male with TCS associated with gene was commonly associated with macular Disease expressivity is highly variable in macular degeneration who also had a novel degeneration. Ninety five white patients with TCS, ranging from the clinically undetectable TCOF1 gene mutation and, secondly, to AMD were therefore screened for the 2055 to death in the perinatal period.6 The late evaluate this mutation in a well characterised del AG mutation by denaturing high perfor- clinical presentation in our case may be cohort of 95 patients with age related mance liquid chromatography (dHPLC),2 using explained by the mild phenotype in the macular degeneration (AMD). the DNA from our patient with TCS as a spectrum of TCS. The TCS Collaborative positive control (fig 2). The spectrum of AMD Group7 first identified different mutations in in this cohort was AREDS grade I (21 the TCOF1 gene in each of five unrelated Case report patients); AREDS grade II (20 patients); families with TCS. All of the mutations were A 44 year old man presented with a 1 month AREDS grade III (19 patients) and AREDS predicted to result in a premature stop codon history of metamorphopsia. He had minimal grade IV (35 patients).3 No abnormal chroma- leading to premature termination of the dysmorphic features but was noted to have tograms were detected in any of these patients. protein product. Since then over 100 disease an antimongoloid slant of the palpebral causing mutations have been reported8 fissures with mild flattening of the midface. throughout the TCOF1 gene in patients with Sensorineural deafness had been diagnosed Comment TCS, which represented a detection rate of from childhood but the external ears were Ophthalmological features in TCS may be 60%. Our patient has a 2055 del AG muta- normal in appearance. Best corrected visual extensive, but rarely involve intraocular tion in exon 13 of the TCOF1 gene which acuity was 6/9 (22.25 DS) right eye and 6/24 structures. Common features include astig- has not been previously reported. We (21.50 DS) left eye. Ocular examination matism, defective inferior lateral angle of speculated that there may be a causal revealed bilateral posterior embryotoxon with the orbit, caudal displacement of the relation between the mutation and the macular degeneration seen in our patient with TCS. The specific role of TCOF1 in the molecular pathogenesis of TCS remains elusive, but mechanisms such as abnormal neural crest http://bjo.bmj.com/ cell migration and abnormal cell death seem important.9TCOF1 is expressed in the human eye and apoptotic regression has been described in organs such as ears and kidneys in animal models of TCS.10 Therefore, it seemed possible that this TCOF1 mutation may also trigger cellular apoptosis resulting in atrophic macular degeneration. However, we tested for the presence of this mutation in on September 30, 2021 by guest. Protected copyright. 95 patients with AMD but did not identify any mutation carriers in this cohort. We acknowledge that it is possible that this macular finding is incidental to TCS and the TCOF1 mutation. The early age of onset of Figure 1 Both eyes showing atrophic macular degeneration. The left eye in addition has subretinal macular degeneration in this patient is also haemorrhage (white arrow) with choroidal neovascularisation. atypical for AMD. We also note that the macular degeneration seen in this patient is more severe than would be expected with his low degree of myopia. It is therefore possible that patients with TCS may have an increased risk of developing macular degeneration. In summary, we describe a new clinical phenotype in a patient with molecularly proved TCS and a novel TCOF1 mutation. Although most cases of TCS present early in life, ophthalmologists need to review adults with TCS to see if macular degeneration is more widespread than reported. This muta- tion, however, does not appear to be impli- cated in AMD. S V Goverdhan, I K Temple, J Self, A J Lotery Figure 2 Mutation screening chromatograms. (A) A double peak is seen indicating the base pair Human Genetics Division, University of Southampton, mismatch in the proband. (B) A normal wave tracing from a screened AMD sample. UK www.bjophthalmol.com 1064 PostScript S V Goverdhan, J Self, A J Lotery history of symmetrical skin induration affect- gastrointestinal tract, kidneys, heart, and Br J Ophthalmol: first published as 10.1136/bjo.2004.061499 on 15 July 2005. Downloaded from Southampton Eye Unit, Southampton University ing her hands, feet, and face. lungs. The lesions of scleroderma are typified Hospitals, Southampton, UK Subsequently skin sclerosis extended over by inflammation and microvasculopathy, the chest wall and proximal limbs, typical of which in turn stimulate collagen overproduc- M J Dixon diffuse systemic sclerosis. She also had tion and fibrosis. School of Biological Sciences, University of oesophageal involvement and interstitial lung Keratoconjunctivitis sicca is the most com- Manchester, UK fibrosis. Initially she responded well to mon ocular complication of scleroderma, symptomatic treatment, but 2 years later present in up to 70% of cases,1 and may be A R Evans she developed worsening breathlessness complicated by foreshortening of the con- Eye Unit, Queen Alexandra Hospital, Portsmouth, UK and pulmonary hypertension was confirmed junctival fornices.2 Choroidal disease is also by right heart catheter. common in scleroderma; one series reported Correspondence to: Professor Andrew Lotery, The At the time of presentation to the eye clinic University of Southampton, Southampton Eye Unit, that 53% of cases had patchy areas of non- her blood pressure was well controlled and Mailpoint 104, Southampton General Hospital, perfusion on fluorescein angiography (FFA), Tremona Road, Southampton SO16 6YD, UK; her blood sugars were normal. On examina- undetectable in all but one, on funduscopy.3 [email protected] tion, best corrected visual acuity was 6/9+2, Another study found choriocapillaris N6 in the right eye and 6/12+2, N8 left eye. abnormalities and normal fundi in seven of doi: 10.1136/bjo.2004.064139 Anterior segment examination and intraocu- 21 FFAs.4 lar pressures were normal. Retinopathy in scleroderma has been Accepted for publication 9 January 2005 Dilated fundal examination showed bilat- described in two patients. The first of these eral disc neovascularistion, multiple cotton was thought to be related to uncontrolled wool spots, and marked venous tortuosity References systemic hypertension, with funduscopic (fig 1). Fluorescein angiography showed findings of cotton wool spots, oedema, and 1 Dixon MJ, Read AP, Donnai D, et al. The gene for marked bilateral capillary closure, disc neo- haemorrhages. The second case, with normal Treacher Collins syndrome maps to the long arm vascularisation, and left macular ischaemia of chromosome 5. Am J Hum Genet (fig 2). blood pressure and normal fundi, was found 1991;49:17–22. A left panretinal photocoagulation was to have histopathological changes through- 2 Underhill PA, Jin L, Lin AA, et al. Detection of performed the same day and the right treated out the retina consisting of extensive vacuo- numerous Y chromosome biallelic polymorphisms similarly 2 weeks later. Two weeks later, lation in the nerve fibre, ganglion cell, and by denaturing high-performance liquid 5 there was no objective change in her acuities plexiform layers. chromatography. Genome Res Horan reported the ophthalmological find- 1997;7:996–1005. but fundal examination showed partial 3 Age-Related Eye Disease Study Research Group. regression of the disc new vessels. ings in a series of 23 patients; only one Risk factors associated with age-related macular She subsequently deteriorated systemically patient was found to have a small superficial degeneration. A case-control study in the age- and died of cardiac failure secondary to retinal haemorrhage, in the absence of 6 related eye disease study: age-related eye disease pulmonary hypertension 30 months after vascular risk factors. study report number 3. Ophthalmology her initial presentation. Hypertensive retinopathy and branch vein 2000;107:2224–32. and artery occlusions have been described 4 Marsh KL, Dixon MJ. Treacher Collins syndrome. and it has been noted by several authors that Adv Otorhinolaryngol 2000;56:53–9.
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