Microphthalmia, Lenz type

Lenz microphthalmia syndrome is a very rare X-linked inherited form of syndromic microphthalmia (see this term) characterized by unilateral or bilateral microphthalmia (and/or clinical anophthalmia) with or without coloboma in addition to a range of extraocular manifestations such as microcephaly, malformed ears, dental abnormalities (i.e. irregular shape of incisors), skeletal anomalies (duplicated thumbs, syndactyly, clinodactyly, camptodactyly (see these terms)), urogenital anomalies (hypospadias, cryptorchidism, renal dysgenesis, hydroureter) and mild to severe intellectual disability. It is allelic to two disorders: oculofaciocardiodental syndrome and premature aging appearance-developmental delay-cardiac arrhythmia syndrome (see these terms).

Anophthalmia

Absence of the globe or eyeball.


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PMID (PMCID)
17951907
(2635974)
 MALE Infant
Lenz microphthalmic syndrome in an Indian patient.
Gupta A, Srinivasan R, Pandian DG, Babu KR.
Indian J Ophthalmol. 2007;55(6):462-3.
A case of Lenz microphthalmia syndrome in a seven-month-old male child having features of unilateral anophthalmia, microcephaly, external ear and finger abnormalities, hydrocele and hypospadias is being reported.
15770227
 MIXED_SAMPLE Infant
Novel mutations in BCOR in three patients with oculo-facio-cardio-dental syndrome, but none in Lenz microphthalmia syndrome.
Horn D, Chyrek M, Kleier S, Luttgen S, Bolz H, Hinkel GK, Korenke GC, Riess A, Schell-Apacik C, Tinschert S, Wieczorek D, Gillessen-Kaesbach G, Kutsche K.
Eur J Hum Genet. 2005;13(5):563-9.
Lenz microphthalmia syndrome is inherited in an X-linked recessive pattern comprising microphthalmia/anophthalmia, mental retardation, malformed ears, digital, skeletal, and urogenital anomalies (synonym: microphthalmia with associated anomalies (MAA)).
12116202
 MIXED_SAMPLE Infant
Genetic heterogeneity of syndromic X-linked recessive microphthalmia-anophthalmia: is Lenz microphthalmia a single disorder?
Ng D, Hadley DW, Tifft CJ, Biesecker LG.
Am J Med Genet. 2002;110(4):308-14.
Genetic heterogeneity of syndromic X-linked recessive microphthalmia-anophthalmia: is Lenz microphthalmia a single disorder?
11426460
 MALE Infant
Manifestations in four males with and an obligate carrier of the Lenz microphthalmia syndrome.
Forrester S, Kovach MJ, Reynolds NM, Urban R, Kimonis V.
Am J Med Genet. 2001;98(1):92-100.
Lenz microphthalmia syndrome is a rare X-linked recessive condition first described by Lenz in 1955 and comprises of anophthalmia, microcephaly, mental retardation, external ear, digital, cardiac, skeletal, and urogenital anomalies.