In addition to typical SDS2 features-pancytopenia, pancreatic insufficiency and growth failure-the patient exhibited unique manifestations, including ROP-like retinal changes, infantile esotropia with inferior oblique overaction, and elevated ACTH and 17-hydroxyprogesterone levels, indicating adrenal dysfunction.<h4>Findings</h4>These findings expand the SDS2 phenotype to include novel ocular and endocrine involvement. The gene discussed is POMC; the disease is Pancytopenia.