Indian Journal of Ophthalmology

: 2019  |  Volume : 67  |  Issue : 9  |  Page : 1467--1468

Goltz syndrome: Primary diagnosis by an ophthalmologist

Ekta Rishi1, Preet Sodhi1, Meenakshi Swaminathan2, Pukhraj Rishi1,  
1 Shri Bhagwan Mahavir Vitreoretinal Services, Medical Research Foundation, Chennai, Tamil Nadu, India
2 Pediatric Ophthalmology Services, Medical Research Foundation, Chennai, Tamil Nadu, India

Correspondence Address:
Dr. Ekta Rishi
Senior Consultant, Shri Bhagwan Mahavir Vitreoretinal Services, Medical Research Foundation, Sankara Nethralaya, 18 College Road, Chennai - 600 006, Tamil Nadu


How to cite this article:
Rishi E, Sodhi P, Swaminathan M, Rishi P. Goltz syndrome: Primary diagnosis by an ophthalmologist.Indian J Ophthalmol 2019;67:1467-1468

How to cite this URL:
Rishi E, Sodhi P, Swaminathan M, Rishi P. Goltz syndrome: Primary diagnosis by an ophthalmologist. Indian J Ophthalmol [serial online] 2019 [cited 2023 Jun 1 ];67:1467-1468
Available from:

Full Text

Goltz syndrome is a rare multisystem disorder affecting tissues of meso-ectodermal origin with cutaneous, skeletal, ocular, and dental abnormalities.

A 3-year-old girl presented with decreased vision in both the eyes and a history of cleft-lip repair and delayed milestones. Her vision was 3/60 by Lea symbols in both eyes. There was a partial ptosis of right eyelid, microcornea, microphthalmos, and iris coloboma in both the eyes with subluxated cataractous lens (right more than left) and stretched ciliary processes [Figure 1]. The fundus examination revealed retinochoroidal coloboma involving disc and macula in both the eyes.{Figure 1}

There was microcephaly and alopecia with asymmetry of both sides of the face along with notched left nares. She had hypopigmented, depressed, and ill-defined macules dispersed over her face. There was polydactyly with syndactyly of the fifth and sixth finger, and the third and fourth finger of left hand, with a characteristic lobster claw deformity; oligodactyly of right third and fourth toe; and hypoplasia of the nails [Figure 2]. Her X-ray spine showed an abnormal sacral vertebra. A high-arched palate, small oropharyngeal papilloma, abnormal dentition with enamel defects, abnormal spacing, malocclusion, and gingival hyperplasia were also noted. Heterozygous nonsense mutation c.727C>T (p.R243*) in exon 9 in the DNA of baby was found and has been earlier described in patients with Goltz-Gorlin syndrome.{Figure 2}

Goltz syndrome is an uncommon X-linked disorder with a probable locus at PORCN gene (Xp11.23). Skin involvement is essential for the diagnosis with hypoplasia of the dermis with ocular involvement seen in 40–70% patients.[1],[2],[3],[4] Some patients present with mental retardation, microcephaly, and hearing defects. Skeletal defects are seen in 80% of the patients, including spinal defects, polydactyly, syndactyly, or clinodactyly.[5]

All features may not be present in one patient due to mosaicism. Treatment of Goltz syndrome is largely supportive. Ophthalmologist may be the first point of contact; timely visual rehabilitation may reduce the associated morbidity of the disease.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Financial support and sponsorship


Conflicts of interest

There are no conflicts of interest.


1Goltz RW, Peterson WC, Gorlin RJ, Ravits HG. Focal dermal hypoplasia. Arch Dermatol 1962;86:708-17.
2Goltz RW. Focal dermal hypoplasia syndrome: An update. Arch Derm 1992;128:1108-11.
3Thomas JV, Yoshizumi MO, Beyer CK, Craft JL, Albert DM. Ocular manifestations of focal dermal hypoplasia syndrome. Arch Ophthalmol 1977;95:1997-2001.
4Gisseman JD, Herce HH. Ophthalmologic manifestations of focal dermal hypoplasia (Goltz syndrome): A case series of 18 patients. Am J Med Genet Part C Semin Med Genet 2016;172C:59-63.
5Knockaert D, Dequeker J. Osteopathiastriata and focal dermal hypoplasia. Skelet Radiol 1979;4:223-7.