PHENOTYPIC OVERLAP OR COINCIDENCE ? A RARE CASE OF SCHWARTZ JAMPEL SYNDROME PRESENTING WITH PETERS ANAMOLY

With only 150 cases of Schwartz jampel syndrome reported globally and Peters anamoly occurs at rate of 1.5 per lakh population their co occurance makes our case exceedingly rare and unique .

A 4-year-old child was brought to the outpatient department by the parents with complaints of whitish opacity in both eyes and difficulty in opening the eyelids. Initial ophthalmic evaluation suggested features consistent with Peters anomaly, prompting referral for pediatric and genetic assessment.

On systemic examination, the child exhibited syndromic facies, including microcephaly (head circumference: 46.5 cm, approximately −2 SD), short stature (−3 SD), Mongoloid slant of the palpebral fissures, a long philtrum, hypoplastic alae nasi, pursed lips, and low-set ears—features suggestive of a syndromic diagnosis.

Ocular examination revealed bilateral blepharophimosis and ptosis with compensatory frontalis muscle overaction. The right eye showed microcornea with a central leukomatous corneal opacity and peripheral iris strands adherent to the posterior corneal surface. The anterior chamber appeared relatively shallow, and further details were obscured due to corneal opacity. The left eye demonstrated a similar presentation, though the corneal opacity was smaller in size. Iris strands were also noted to be adherent to the posterior cornea.

Interestingly, the patient’s 11-year-old elder sibling exhibited similar craniofacial features and systemic findings but had clear cornea, and no signs suggestive of Peters anomaly but had subluxation of lens in right eye which has been described in cases of SJS. This contrast raises a question of phenotypic overlap or coincidence in the current case.

SJS is a systemic disorder with multisystem involvement, primarily affecting skeletal and neuromuscular function. Ocular manifestations are prominent, with blepharophimosis being the most frequently observed feature. This condition alters eyelid anatomy, resulting in narrowed palpebral fissures, ptosis, and medial epicanthal folds.

Uniquely, the patient described in this case exhibited classical features of SJS along with central leukomatous corneal opacities and peripheral iris strands adhered  to the posterior cornea—findings typical of Peters anomaly, and this finding has not been described in association with SJS in literature so far, also pathophysiology is very different in these two conditions.

Pathogenesis of SJS and Peters anomaly is fundamentally distinct, suggesting that their co-occurrence in this patient is coincidental rather than causally linked. Notably, the patient’s elder sibling, who shares systemic and facial features consistent with SJS, does not exhibit ocular abnormalities or signs of Peters anomaly. This contrast explains  the uniqueness of the current case and highlights the importance of comprehensive evaluation in syndromic presentations with atypical ocular findings