This case report describes a patient with TS with a rare ophthalmic finding of microphthalmia, PHPV and retinal detachment, with the possibility of a retinal hamartoma within a retinal detachment. A similar finding has been described in a case report in 1999 in Canada [7]. A 6-week old was referred for leukocoria and diagnosed with PHPV and TS on examination and imaging. Subsequent enucleation found a retinal hamartoma in an atypical location, explained by PHPV resulting in trapped proliferating elements. The hamartoma was of an unexpectedly large size for the patient’s young age, suggestive of retinal detachment. The contralateral eye had retinal hamartomas typical of TS. There has been no other described association of TS or PHPV since this case report. Our patient’s ophthalmic findings have not been confirmed on histopathology, unlike the previous case report.

PHPV is a rare congenital developmental malformation, caused by the failure of regression of the primary vitreous [8]. It usually occurs sporadically, though there are reports of PHPV in certain rare syndromes, such as trisomy 13, Walker-Warburg syndrome, Norrie disease, osteoporosis-pseudoglioma syndrome [9,10,11,12]. PHPV can be complicated by retinal detachment, which is rare in retinal hamartomas [1, 13].

Aside from the aforementioned historical case report, there is no known association between TS and PHPV. Recently, genetic studies have found that microphthalmia-associated transcription factor (MITF) transcription and expression is reduced by mutations in TS genes, TSC1 and TSC 2 [14]. MITF mutations are associated with microphthalmia, retinal degeneration and hyperplasia of the retinal pigment epithelium [15], and we postulate that this may be a possible link.

A strength of this case is that despite the rare occurrence of the conditions, we were able to make these diagnoses under the care of subspecialist paediatric radiologists and ophthalmologists. However, limitations include the absence of histopathological confirmation and genetic analysis currently.

We believe this is the second published case report of a patient with TS and PHPV, resulting in either total retinal detachment or a retinal hamartoma within a retinal detachment.