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Year : 2023  |  Volume : 3  |  Issue : 1  |  Page : 207-208

Atypical presentation of Cowden syndrome

Pediatric Ophthalmology and Squint Services, Aravind Eye Hospital and Post Graduate Institute of Ophthalmology, Tirunelveli, Tamil Nadu, India

Date of Submission16-Aug-2022
Date of Acceptance18-Nov-2022
Date of Web Publication20-Jan-2023

Correspondence Address:
Aparna Krishnan
Aravind Eye Hospital and Post Graduate Institute of Ophthalmology, Tirunelveli, S.N. High Road, Tirunelveli Junction - 627 001, Tamil Nadu
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/ijo.IJO_2031_22

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Keywords: Cowden syndrome, Macrocephaly, Lobar holoprosencephaly

How to cite this article:
Pawar N, Krishnan A, Ravindran M. Atypical presentation of Cowden syndrome. Indian J Ophthalmol Case Rep 2023;3:207-8

How to cite this URL:
Pawar N, Krishnan A, Ravindran M. Atypical presentation of Cowden syndrome. Indian J Ophthalmol Case Rep [serial online] 2023 [cited 2023 Feb 1];3:207-8. Available from: https://www.ijoreports.in/text.asp?2023/3/1/207/368206

Cowden syndrome is a genetic disorder with PTEN mutation, characterized by multiple tumor-like growths called hamartomas and with an increased risk of various cancers.[1] Here we report a 6-year-old boy, born of a non-consanguineous marriage, with developmental delay, macrocephaly, and genetically proven as Cowden syndrome with autistic syndrome [Figure 1]. His mother was also known case of Cowden syndrome. His magnetic resonance imaging (MRI) brain showed absent falx cerebri in the anterior aspect and interdigitating gyri in the frontal region, suggestive of lobar holoprosencephaly. His systemic examination was within normal limits and there was no evidence of any hamartoma. His best corrected visual acuity was 6/6 in the right eye and 6/12 in the left eye with normal cycloplegic refraction. He had alternating exotropia of 18 PD at near and distance with left hypotropia and right eye dominance with left eye strabismic amblyopia. Ocular movements showed inferior oblique overaction of grade 3 in both eyes [Figure 2]. Fundus examination was normal in both eyes except for an extorsion of grade 2 in both eyes [Figure 3]a and [Figure 3]b. There was no evidence of retinal hamartomas.
Figure 1: Face photo showing Macrocephaly

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Figure 2: Nine gaze image showing bilateral inferior oblique over action in both eyes

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Figure 3: Fundus image showing extorsion of grade 2 in right eye and left eye respectively

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  Discussion Top

His genetic analysis revealed heterozygous missense variation in exon 5 of the PTEN gene that results in an amino acid substitution of Leucine for Histidine at codon 141. Cowden syndrome is a rare genetic disorder characterized by multiple non-cancerous hamartomas in different parts of the body, especially the skin, mouth, and gastrointestinal tract, and has an increased risk of cancer [Table 1].[1] In the literature, various cases have reported different ocular findings in Cowden syndrome including periocular cutaneous hamartoma, retinal hamartomas uveitis, and presenile cataracts.[1],[2] Our case is unique as there were no typical systemic and ocular manifestations of Cowden syndrome at present, except alternating exotropia and extorsion. As patients of Cowden syndrome are predisposed to a variety of cancers; so, regular screening of thyroid, renal ultrasonography, and dermatological examination are warranted.
Table 1: Clinical manifestations of Cowden syndrome

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Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

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Conflicts of interest

There are no conflicts of interest.

  References Top

Schneider E, Eisengart J, Eng C, Moroi S. Ophthalmic phenotypes in cowden syndrome associated with germline PTEN mutations. Invest Ophthalmol Vis Sci 2010;51:3095.  Back to cited text no. 1
Mansoor Q, Steel DH. Proliferative retinopathy in Cowden syndrome. BMJ Case Rep 2012;2012:bcr1120115273. doi: 10.1136/bcr. 11.2011.5273.  Back to cited text no. 2


  [Figure 1], [Figure 2], [Figure 3]

  [Table 1]


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