Ocular Manifestations of the Lacrimo-auriculo-dento-digital Syndrome

Characteristics of lacrimo-auriculo-dento-digital (LADD) syndrome: Case report of a family and literature review

“…Mixed sensorineural and conductive hearing loss, either unilateral or bilateral, frequently is found in patients with LADD syndrome [1][2][3][4][6][7][8][9]. Although this hearing loss is usually mild to moderate, severe hearing loss has been reported, as demonstrated in our boy case.…”

“…Reported lacrimal apparatus malformations included nasolacrimal duct obstruction and hypoplasia or aplasia of the lacrimal puncta [1][2][3][4]8,9]. In our 13-year-old patient, both inferior and superior puncta was patent and dacryocystography revealed well-developed nasolacrimal apparatus and large lacrimal sacs.…”

“…Subsequently anomalies of the lacrimal and salivary glands were noted [5,9]. Mixed sensorineural deafness is often present and this may be congenital or appear in later life [1][2][3][4]8,9]. Renal anomalies have also been reported [1,2,5,11,12].…”

“…This case did not complain apparent epiphora and the lack of tearing symptom could simply be because of insufficient tear production due to alacrima. It has been suggested that the basis for the decreased lacrimation in patients with LADD syndrome may be acinar aplasia or hypoplasia [8,17]. The basal secretion from the accessory lacrimal glands may provide sufficient tears to maintain the integrity of the corneal epithelium.…”

“…The otolaryngologic features, as initially described by Hollister and associates included cup shaped ears and hearing loss [8]. In 1985, Thompson et al described new findings of xerostomia and keratoconjunctivitis sicca of the LADD syndrome [9].…”