Ethics approval: The study was approved by the Institute Ethics Committee, AIIMS, New Delhi, India
Conflict of interest: None of the authors have any conflict of interests.
Legends:
Figure 1 : (a)Pedigree chart of the family with three children affected with GAPO syndrome showing at least three generations of consanguinity. The half shaded circle depicts the child having only GAPO syndrome, but not glaucoma. The younger two siblings had glaucoma with GAPO syndrome depicted as full shaded circles. The ages mentioned in the pedigree are those at their last follow up.
(b) Chromatograms showing heterozygous,TGFBI; NM_000358.3:c.968C>T; p.Ala323Val mutation found in the two girls with congenital glaucoma and GAPO syndrome.
Figure 2 : Clinical photographs of Case 1 (A1-4), Case 2 (B1-4) and Case 3 (C1-4). Front facial profile and side facial profile of the patients illustrate the presence of a characteristic geriatric appearance, with alopecia, sparse eyebrows, frontal bossing, prominent supraorbital ridges, depressed nasal bridge, anteverted nostrils and a long philtrum. Clinical photograph of the oral cavity shows impaction of teeth with a reduction in its number. Radiograph of the face (lateral view with open mouth) reveals a normal number of teeth, confirming pseudoanodontia. Anterior segment photograph of Case1 (A2) reveals the presence of megalocornea with prominent iridocorneal adhesions and keratopathy (blue arrow). Corneal opacities are also seen (black arrows; magnified inset). AS-OCT image of the same patient (A4) confirms the iridocorneal adhesions (white arrow). Central keratopathy can be seen in the anterior segment photograph of RE of Case 2 (B2). An ultrasound biomicroscopy (UBM) of the same Case revealed central corneal thickening with thinned out iris and ciliary body (B4).
Figure 3 :
(A) Anterior segment photo of the patient with granular corneal dystrophy and JOAG. (B) Goniophotograph of the same patient showing open angles.(C) Fundus photograph of the patient showing advanced glaucomatous optic atrophy (D) Pedigree chart of the patient. Black shaded square depicts the proband having glaucoma and granular dystrophy. Grey shaded square and circle indicates affected status with only granular corneal dystrophy. The ages mentioned in the pedigree are those at their last follow up.