Atypical Presentation of Tubulointerstitial Nephritis and Uveitis Syndrome, a Rare Disease.

Purpose: To expand the current knowledge of tubulointerstitial nephritis and uveitis syndrome (TINU), which might assist other ophthalmologists in recognizing and treating patients with this rare disease. Methods: A patient with atypical demographics and features was compared with previously described TINU cases. The case was analyzed in terms of how it compares with more "classic" cases, and the differences were identified. Results: The diagnosis of TINU is ultimately clinical, although aided by previous studies. Thus, it might present challenges when patients do not have the typical demographics or presenting features of TINU. Conclusions: Our patient showed features that deviated from classic TINU. Knowledge of the disease and a comprehensive view of the patient's medical state might help lead to accurate diagnosis and treatment.

Ophthalmia neonatorum due to Escherichia coli: A rare cause or an emerging bacterial etiology of neonatal conjunctivitis?

Since the introduction of universal gonococcal and chlamydia prophylaxis, other etiologies for neonatal conjunctivitis such as Escherichia coli have become more common. Early eye culturing as part of the management plan could provide swifter treatment and preservation of vision potential in affected neonates.

Eye, Ocular Adnexa, and Facial Manifestations of Tetrasomy 18p.

Tetrasomy 18p is often the result of an additional isochromosome for the short arm of chromosome 18. Although many organ systems are affected phenotypically, the ocular manifestations associated with tetrasomy 18p have not been well characterized in the literature. This case report presents the ocular and facial features associated with tetrasomy 18p in a 4-year-old Black girl, along with a review of clinical presentations previously reported in the literature. A systematic review of the literature in PubMed was conducted to summarize the reported eye, ocular adnexa, and distinctive facial features in individuals with confirmed tetrasomy 18p. Searching "Tetrasomy 18p" generated 65 article results, of which 28 articles had sufficient eye and facial descriptions. Including the patient in this report, 90 patients had confirmed tetrasomy 18p. The most common features noted in these 90 patients, with a roughly equal male-to-female ratio of impact (7:8), were as follows: microcephaly (57%), triangular facies (18%), anomalous palpebral fissures (31%), strabismus (48%), low-set ears (52%), hearing loss to some extent (16%), depressed or flat nasal bridge (18%), smooth philtrum (41%), thin upper lip (27%), and highly arched palate (21%). Additionally, many were noted to have feeding difficulties (28%), developmental delay (58%), and abnormal brain findings on imaging (20%). Muscle tone was abnormal in 23% of the patients. This report elucidates the reoccurring eye, ocular adnexa, and distinctive facial features associated with tetrasomy 18p. This knowledge may assist in timely diagnosis and encourage providers to use a multidisciplinary approach for the treatment of affected individuals. [J Pediatr Ophthalmol Strabismus. 2021;58(6):e44-e48.].