Congenital glaucoma as an ophthalmic manifestation of Frank–Ter Haar syndrome

Abstract

We report on a patient with Frank-Ter Haar syndrome that is associated with high intraocular pressures. A 21-day-old male patient was referred to our clinic for surgical treatment of congenital glaucoma. On ophthalmic examination, he had buphthalmos, mild corneal edema and high IOP readings in both eyes. The patient underwent uneventful trabeculotomy surgery, bilaterally. Marked bilateral anterior iris insertion was noted during the surgery. Childhood glaucoma may be associated with Frank-Ter Haar syndrome.

TheIn VivoEffects of the CB1-Positive Allosteric Modulator GAT229 on Intraocular Pressure in Ocular Normotensive and Hypertensive Mice

“…Nee mice have a 1 base pair deletion in Sh3pxd2b gene, 60 causing a loss of function mutation similar to mutations found in the Frank-Ter Haar syndrome, a rare developmental syndrome that frequently involves congenital glaucoma. [71][72][73] Nee mice display closed iridocorneal angles, presumably as a result of improper development. 71 While at 16 days postnatal (p16), nee mice of both sexes have IOP similar to their wildtype (WT) littermates (P > 0.05; 17.6 -1.8 mmHg, n = 6, and 12.6 -0.4 mmHg, n = 5, respectively), and nee mice display a significant progressive increase in IOP, which is sustained over their lifetime (Fig.…”

Frank–ter Haar syndrome—additional findings?

“…[2][3][4][5][6] The first cases were reported by Frank et al 7 and ter Haar et al 8 These cases were considered a variation of Melnick-Needles syndrome but were classified as a different entity called Frank-ter Haar syndrome because of the accompanying congenital cardiac defects and autosomal recessive inheritance pattern. 2 Therapeutic actions are usually based on the symptoms: ophthalmology, neurology, cardiology, genetics, physiotherapy, orthopaedics and rehabilitation.…”