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Retinal neovascularisation in Goltz syndrome (focal dermal hypoplasia)
  1. A A S DUNLOP
  1. Medical Retinal Unit, Moorfields Eye Hospital, City Road, London
  2. Department of Dermatology, Great Ormond Street Hospital for Children, London
  3. Medical Retinal Unit, Moorfields Eye Hospital, City Road, London
  1. J I HARPER
  1. Medical Retinal Unit, Moorfields Eye Hospital, City Road, London
  2. Department of Dermatology, Great Ormond Street Hospital for Children, London
  3. Medical Retinal Unit, Moorfields Eye Hospital, City Road, London
  1. A M P HAMILTON
  1. Medical Retinal Unit, Moorfields Eye Hospital, City Road, London
  2. Department of Dermatology, Great Ormond Street Hospital for Children, London
  3. Medical Retinal Unit, Moorfields Eye Hospital, City Road, London
  1. Dr A A S Dunlop, 66 King Street, Newcastle, NSW 2300, Australia.

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Editor,—This is the first reported case of Goltz syndrome with documented peripheral retinal non-perfusion with subsequent retinal neovascularisation and vitreous haemorrhage. In the eye this represents solely a mesodermal disturbance compared with the more common cases which present with both mesodermal and neuroectodermal disturbances, such as colobomata or microphthalmia.

CASE REPORT

Goltz syndrome was diagnosed shortly after birth in a girl with linear lesions of atrophic skin following Blaschko’s lines on the trunk and symmetrical syndactyly of the third to fourth fingers and second to third toes. Initial ophthalmic screening revealed no ocular anomalies. Dental screening revealed the congenital absence of one deciduous incisor. Screening of the parents, brother, and sister was negative for skin, skeletal, and ocular anomalies. When she was aged 5 years, routine ophthalmic review showed a vision of right eye 6/9 and left eye 6/5, with a minor right myopia.

Age 7 years, she complained of a brief episode of photopsia and floaters in the right eye. Vision was right eye 6/20 and left eye 6/6. Examination revealed a right vitreous haemorrhage, telangiectatic vessels temporal to the macula, and temporal equatorial fibrotic vessels and haemorrhage. Fluorescein angiography showed bilateral peripheral retinal non-perfusion and right temporal neovascularisation (see Figs 1 and 2). This was treated conservatively for 2 years; however, after six bleeds within 3 months indirect retinal photocoagulation to the areas of non-perfusion was performed with subsequent new vessel regression within weeks.

Figure 1

Colour fundus photograph of right temporal retina showing perfused retina (photo right) to peripheral non-perfusion (photo left) with fibrotic vessels and neovascular complex in the transition zone. (Inferior discoloration is artefact.)

Figure 2

Fluorescein angiogram of same area showing peripheral non-perfusion and haemorrhage arising from the neovascular complex. The arborisation of the retinal vessels appears normal till the transitional zone.

COMMENT

Focal dermal hypoplasia is a rare disorder of ectodermal and mesodermal dysplasia originally described by Goltzet al.1 It is characterised by congenital atrophic skin changes often associated with herniation of the subcutaneous fat; skeletal anomalies, in particular syndactyly, polydactyly, or adactyly as well as scoliosis, kyphosis, spina bifida occulta, rib and scapula anomalies; and dental anomalies, especially hypodontia.

Ocular anomalies occur in 40% of cases.2 Colobomata have been reported in one third of cases, then less frequently microphthalmia, strabismus, nystagmus, and ectopia lentis.3Other reported ocular anomalies include anophthalmia, corneal clouding, aniridia, heterochromia, and optic atrophy. Rarely ectropion and ptosis may occur as well as lid margin or conjunctival papillomatous lesions (histological angiofibromas).1 2 4 5 Only one case of cloudy vitreous has been reported. This was in association with microphthalmia, aniridia, and lens subluxation.6 Retinal sclerosis or hypopigmentation was reported in Goltz’s original case review.1 No attempt was made to explain these findings. In our case, there was peripheral retinal non-perfusion and temporal retinal telangiectasia with subsequent neovascularisation and vitreous haemorrhage.

The differential diagnosis of retinal vascular anomalies associated with skin lesions includes incontinentia pigmenti (IP) and Cockayne’s syndrome. Although focal skin atrophy may occur in IP, the initial skin lesions are vesicles and bullae which may later become pigmented maculae. The skin lesions in Cockayne’s syndrome are pigmented scars due to light sensitivity and trauma. Neither syndrome is associated with digital anomalies.

The genetic anomaly in Goltz syndrome remains to be determined. Most cases are sporadic. It is generally thought to be X linked dominant with lethality in males, like IP; however, 9% of cases are male. These are proposed to be the result of half chromatid mutations.7Deletions in the region of the chromosome Xp22 are a suggested site, though these must be differentiated from the deletions seen in microphthalmia with linear skin defects (MLS) and that of microphthalmia, dermal aplasia, and sclerocornea (MIDAS), which are now considered to be distinct entities.8 9 The wide variation in severity of expression is thought to be due to mosaicism.

References

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