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.