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Year : 2021  |  Volume : 1  |  Issue : 1  |  Page : 52-53

Goltz syndrome with congenital glaucoma: A new ophthalmologic manifestation

Glaucoma Research Facility and Clinical Services, Dr Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi, India

Date of Submission20-Mar-2020
Date of Acceptance15-Jul-2020
Date of Web Publication31-Dec-2020

Correspondence Address:
Dr. Shikha Gupta
Room 374, 3rd Floor, Dr Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences (AIIMS), New Delhi
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/ijo.IJO_571_20

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Keywords: Aniridia, coloboma, congenital glaucoma, focal dermal hypoplasia, Goltz syndrome

How to cite this article:
Warjri GB, Venkatraman V, Sihota R, Gupta V, Gupta S. Goltz syndrome with congenital glaucoma: A new ophthalmologic manifestation. Indian J Ophthalmol Case Rep 2021;1:52-3

How to cite this URL:
Warjri GB, Venkatraman V, Sihota R, Gupta V, Gupta S. Goltz syndrome with congenital glaucoma: A new ophthalmologic manifestation. Indian J Ophthalmol Case Rep [serial online] 2021 [cited 2021 Mar 6];1:52-3. Available from: https://www.ijoreports.in/text.asp?2021/1/1/52/305528

We report a case of Goltz syndrome in a three-year-old female, with associated congenital glaucoma.

At presentation, baseline intraocular-pressure (IOP) was 24 mmHg in the right eye (RE) and 38 mmHg in the left eye (LE) as measured by a Perkins tonometer examination-under-anaesthesia (EUA). Some EUA findings are in listed in [Table 1]. LE was managed surgically (trabeculectomy plus trabeculotomy) at 1 month of age when a few systemic features were noted and she was referred to the Genetics and Pediatrics OPD and three years later, a retrabeculectomy LE was performed as target IOP was not maintained.
Table 1: EUA findings of corneal diameter and axial length at the first surgery at 1 month of age and post operatively

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The anterior segment findings were partial aniridia with inferior iris coloboma RE [Figure 1]a and total aniridia LE [Figure 1]b with both the corneas clear before and after surgery. Fundus examination RE showed a pink tilted disc, disc coloboma, and type III inferonasal choroidal coloboma [Figure 2]a.[1] LE showed a type I choroidal coloboma and an indistinct disc [Figure 2]b. Her systemic features are described in [Figure 3] and [Figure 4].
Figure 1: Anterior segment photographs of the case. (a) Diffuse illumination showing OD partial aniridia with inferior iris coloboma with strands of ciliary processes visible through the defect between the 4 to 6'o clock position. (b) Diffuse illumination of OS showing total aniridia with strands of ciliary processes visible 360 degrees, the crystalline lens, with 360 degrees zonules, is also visible

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Figure 2: Fundus photograph of the case. (a) OD showing a pink tilted disc with sharp margins, with a healthy neuroretinal rim, with the presence of a disc coloboma. Also seen is a type III choroidal coloboma in the inferonasal quadrant. (b) OS showing a type I choroidal coloboma. The disc details could not be made out due to the type I choroidal coloboma. The coloboma had a few blood vessels and an area of ectasia inferior to the disc as can be made out by the sharp bend in the vessels in that area. Pigmentary changes were seen along the edges of the coloboma

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Figure 3: Clinical photographs of the case. (a and b) mid facial hypoplasia, hypopigmentation in a blaschkolinear distribution on the forehead, slightly broad nasal tip, hypoplastic alae nasi with excessively arched ala, multiple atrophic areas of skin with yellowish nodules over depigmented macules on the face, sparse hair and eyebrows, low set ears, megalopinna, underfolded ears with hypopigmentation of the helices and underdevelopment of the superior helices. (c) The trunk with atrophic skin and dermal hypoplasia with fat herniation along with blaschkoid hypo. and hyperpigmented skin lesions

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Figure 4: Clinical photographs of the limbs. (a), (b) and (c) The presence of clinodactyly of both hands, dysplastic nail changes with ridging in both feet, partial ectrodactyly of the second and fourth toe of the right foot, syndactyly of second and third fingers of the right hand and first and second toe as well as the third and fourth toe of the right foot

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  Discussion Top

Goltz syndrome, inherited by an X-linked dominant gene (PORCN) is an uncommon multisystemic disorder comprising of ectodermal and mesodermal dysplasia.[2] The gene is responsible for encoding an endoplasmic-reticulum transmembrane protein that is required for processing Wnt signalling proteins, vital for skin and bone development.[2] The incidence of ophthalmologic manifestations ranges from 40% to 77%.[3]

Ocular manifestations are coloboma, microphthalmia, anophthalmia, recurrent papillomas, anirida, squint, lacrimal duct anomalies, subepithelial corneal opacifications, ectopia lentis, optic atrophy, and rarely ectropion and ptosis.[4] Retinal findings include retinal hypopigmentation or sclerosis, temporal retinal telangiectasia, neovascularization and vitreous hemorrhage, and persistent hyperplastic primary vitreous and retinal detachment.[5]

As congenital neonatal glaucoma has never been reported in Goltz-syndrome, we can only speculate that the cause of glaucoma can be incidental or can be due to the associated aniridia. Previous cases of Goltz-syndrome with aniridia which have been discussed in the literature have never mentioned glaucoma, possibly due to the absence of IOP recordings. It is therefore very important to screen for glaucoma, especially those with associated aniridia, as glaucoma is a potentially reversible blinding condition.

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.

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Conflicts of interest

There are no conflicts of interest.

  References Top

Mann I. Developmental Abnormalities of the Eye. Cambridge University Press: London, UK; 1937. p. 65-103.  Back to cited text no. 1
Goltz RW, Peterson WC Jr, Gorlin RJ, Ravits HG. Focal dermal hypoplasia. Arch Derm 1962;86:708-17.  Back to cited text no. 2
Gisseman JD Gisseman JD, Herce HH. Ophthalmologic manifestations of focal dermal hypoplasia (Goltz syndrome): A case series of 18 patients. Am J Med Genet C Semin Med Genet 2016;172C: 59-63.  Back to cited text no. 3
Thomas JV, Yoshizumi MO, Beyer CK, Craft JL, Albert DM. Ocular manifestations of focal dermal hypoplasia syndrome. Arch Ophthalmol 1977;95:1997-2001.  Back to cited text no. 4
Dunlop AA, Harper JI, Hamilton AM. Retinal neovascularisation in Goltz syndrome (focal dermal hypoplasia). Br J Ophthalmol 1999;83:1094.  Back to cited text no. 5


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

  [Table 1]


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